Varaico: Literature-Extracted Genetic Variants

Gene:SEC61A2
Variant:p.L175F

SEC61A2

18 papers

RefSeq Summary

The protein encoded by this gene has similarity to a mouse protein which suggests a role in the insertion of secretory and membrane polypeptides into the endoplasmic reticulum. It may also be required...

Pfam Domains

Plug_transloconaa 40–74UCSCPlug domain of Sec61p
SecYaa 75–458UCSCSecY

Gene Aliases

HGNC Name

SEC61 translocon subunit alpha 2

HGNC Alias Symbol

FLJ10578

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_018144.4
p.L175F
c.525G>C
Surrounding Variants
1 paper
NM_018144.4
p.L175F
c.525G>T
1 paper
NM_018144.4
p.G176E
c.527G>A
2 papers
NM_018144.4
p.S177A
c.529T>G
1 paper
NM_018144.4
p.T185Fs
c.554delinsCAFs
1 paper
NM_018144.4
p.L155V
c.463T>G
1 paper
NM_018144.4
p.T207Fs
c.620delinsCAFs
1 paper
NM_018144.4
p.R273*
c.817C>T
1 paper
NM_018144.4
p.P280S
c.838C>T
1 paper
NM_018144.4
p.Y285H
c.853T>C
1 paper
NM_018144.4
p.N300K
c.900C>A
1 paper
NM_018144.4
p.N300K
c.900C>G
1 paper
NM_018144.4
p.A325A
c.975C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."