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TMEM131 c.4769A>C ;(p.D1590A)
Variant ID: 2-98378618-T-G
NM_015348.1(
TMEM131
):c.4769A>C;(p.D1590A)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Broadly conserved roles of TMEM131 family proteins in intracellular collagen assembly and secretory cargo trafficking.
Science Advances
Zhang, Zhe Z; Bai, Meirong M; Barbosa, Guilherme Oliveira GO; Chen, Andrew A; Wei, Yuehua Y; Luo, Shuo S; Wang, Xin X; Wang, Bingying B; Tsukui, Tatsuya T; Li, Hao H; Sheppard, Dean D; Kornberg, Thomas B TB; Ma, Dengke K DK
Publication Date: 2020-02
Variant appearance in text: TMEM131: D1590A
PubMed Link:
32095531
Variant Present in the following documents:
aay7667.pdf
View BVdb publication page