Variant ID: 1-45797137-AC-AA

NM_012222.2(MUTYH):c.1268delinsT;(p.Arg423Leu)

This variant was identified in 1 publication




Publications:


Base excision repair and the role of MUTYH.

Hereditary Cancer In Clinical Practice
C Kairupan, RJ Scott
Publication Date: 2007-12-15

Variant appearance in text: MUTYH: R423Q
PubMed Link: 19725997
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000354383.6 c.1196delinsT p.Arg399Leu missense_variant 13/16 -
ENST00000355498.2 c.1193delinsT p.Arg398Leu missense_variant 13/16 -
ENST00000372098.3 c.1268delinsT p.Arg423Leu missense_variant 13/16 -
ENST00000372100.5 c.1226delinsT p.Arg409Leu missense_variant 13/16 -
ENST00000372104.1 c.1193delinsT p.Arg398Leu missense_variant 14/17 -
ENST00000372110.3 c.1238delinsT p.Arg413Leu missense_variant 13/16 -
ENST00000372115.3 c.1235delinsT p.Arg412Leu missense_variant 13/16 -
ENST00000448481.1 c.1226delinsT p.Arg409Leu missense_variant 13/16 -
ENST00000450313.1 c.1277delinsT p.Arg426Leu missense_variant 13/16 -
ENST00000456914.2 c.1193delinsT p.Arg398Leu missense_variant 13/16 -
ENST00000467459.1 c.*55delinsT - 3_prime_UTR_variant,NMD_transcript_variant 5/8 -
ENST00000475516.1 c.*1006delinsT - 3_prime_UTR_variant,NMD_transcript_variant 13/16 -
ENST00000481571.1 c.*1006delinsT - 3_prime_UTR_variant,NMD_transcript_variant 13/16 -
ENST00000482094.1 n.514delinsT - non_coding_transcript_exon_variant 2/5 -
ENST00000488731.2 c.278delinsT p.Arg93Leu missense_variant 4/7 -
ENST00000528013.2 c.1235delinsT p.Arg412Leu missense_variant 13/16 -
ENST00000528332.2 c.320delinsT p.Arg107Leu missense_variant 4/7 -
ENST00000529892.1 c.268delinsT p.Arg90Leu missense_variant 3/6 -
ENST00000529984.1 c.278delinsT p.Arg93Leu missense_variant 4/7 -
ENST00000531105.1 c.116-2029delinsT - intron_variant - 2/2
ENST00000533178.1 c.*522delinsT - 3_prime_UTR_variant,NMD_transcript_variant 7/10 -
NM_001048171.1 c.1235delinsT p.Arg412Leu missense_variant 13/16 -
NM_001048172.1 c.1196delinsT p.Arg399Leu missense_variant 13/16 -
NM_001048173.1 c.1193delinsT p.Arg398Leu missense_variant 13/16 -
NM_001048174.1 c.1193delinsT p.Arg398Leu missense_variant 13/16 -
NM_001128425.1 c.1277delinsT p.Arg426Leu missense_variant 13/16 -
NM_001293190.1 c.1238delinsT p.Arg413Leu missense_variant 13/16 -
NM_001293191.1 c.1226delinsT p.Arg409Leu missense_variant 13/16 -
NM_001293192.1 c.917delinsT p.Arg306Leu missense_variant 13/16 -
NM_001293195.1 c.1193delinsT p.Arg398Leu missense_variant 14/17 -
NM_001293196.1 c.917delinsT p.Arg306Leu missense_variant 13/16 -
NM_001350650.1 c.848delinsT p.Arg283Leu missense_variant 12/15 -
NM_001350651.1 c.848delinsT p.Arg283Leu missense_variant 12/15 -
NM_012222.2 c.1268delinsT p.Arg423Leu missense_variant 13/16 -
NR_146882.1 n.1451delinsT - non_coding_transcript_exon_variant 13/17 -
NR_146883.1 n.1265delinsT - non_coding_transcript_exon_variant 12/16 -