Varaico: Literature-Extracted Genetic Variants

Gene:SEC61A1

SEC61A1

83 papers

RefSeq Summary

The protein encoded by this gene belongs to the SECY/SEC61- alpha family. It appears to play a crucial role in the insertion of secretory and membrane polypeptides into the endoplasmic reticulum. This...

Pfam Domains

Plug_transloconaa 1–21UCSCPlug domain of Sec61p
SecYaa 22–405UCSCSecY

Gene Aliases

HGNC Name

SEC61 translocon subunit alpha 1

HGNC Previous Name

Sec61 alpha 1 subunit (S. cerevisiae)

Papers
RefSeq ID
Protein change
DNA change
1–12 of 84 variants
12 papers
NM_013336.4
p.V67G
c.200T>G
12 papers
NM_013336.4
p.V85D
c.254T>A
12 papers
NM_013336.4
p.T185A
c.553A>G
10 papers
NM_013336.4
p.E381*
c.1141G>T
9 papers
NM_013336.4
p.Q92R
c.275A>G
8 papers
NM_013336.4
p.Y344H
c.1030T>C
7 papers
NM_013336.4
p.F62Y
c.185T>A
3 papers
NM_013336.4
p.D60G
c.179A>G
3 papers
NM_013336.4
p.R236C
c.706C>T
3 papers
NM_013336.4
p.G442V
c.1325G>T
2 papers
NM_013336.4
p.I9insFs
c.26_27insG
2 papers
NM_013336.4
p.K10insFs
c.28dupA
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."