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PPL c.4107C>G ;(p.S1369R)
Variant ID: 16-4934549-G-C
NM_002705.4(
PPL
):c.4107C>G;(p.S1369R)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.
Human Genome Variation
Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-09-08
Variant appearance in text: rs1049208
PubMed Link:
36075891
Variant Present in the following documents:
41439_2022_208_MOESM5_ESM.xlsx, sheet 2
41439_2022_208_MOESM3_ESM.xlsx, sheet 2
41439_2022_208_MOESM4_ESM.xlsx, sheet 2
View BVdb publication page
Multiple genetic mutations caused by NKX6.3 depletion contribute to gastric tumorigenesis.
Scientific Reports
Yoon, Jung Hwan JH; Kim, Olga O; Eun, Jung Woo JW; Choi, Sung Sook SS; Ashktorab, Hassan H; Smoot, Duane T DT; Nam, Suk Woo SW; Park, Won Sang WS
Publication Date: 2018-12-04
Variant appearance in text: rs1049208
PubMed Link:
30514953
Variant Present in the following documents:
41598_2018_35733_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page