Variant ID: 12-102590816-TC-AC

NM_002674.2(PMCH):c.383delinsT;(p.Glu128Val)

This variant was identified in 1 publication




Publications:


How genetically engineered systems are helping to define, and in some cases redefine, the neurobiological basis of sleep and wake.

Temperature (Austin, Tex.)
PM Fuller, A Yamanaka, M Lazarus
Publication Date: 2015

Variant appearance in text: MCH: E128T
PubMed Link: 27227054
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000327680.2 c.*747delinsA - 3_prime_UTR_variant 12/12 -
ENST00000329406.4 c.383delinsT p.Glu128Val missense_variant 2/3 -
ENST00000378128.3 c.*1015delinsA - 3_prime_UTR_variant 7/7 -
ENST00000412715.2 c.*1015delinsA - 3_prime_UTR_variant 6/6 -
ENST00000417507.2 c.*1079delinsA - 3_prime_UTR_variant 7/7 -
ENST00000457614.2 c.*1801delinsA - 3_prime_UTR_variant,NMD_transcript_variant 8/8 -
ENST00000535811.1 n.1142delinsA - non_coding_transcript_exon_variant 2/2 -
NM_001319988.1 c.*747delinsA - 3_prime_UTR_variant 12/12 -
NM_001319993.1 c.*747delinsA - 3_prime_UTR_variant 12/12 -
NM_001319994.1 c.*747delinsA - 3_prime_UTR_variant 11/11 -
NM_002674.4 c.383delinsT p.Glu128Val missense_variant 2/3 -
NM_017915.4 c.*747delinsA - 3_prime_UTR_variant 11/11 -
NR_135123.1 n.1686delinsA - non_coding_transcript_exon_variant 5/5 -