Varaico: Literature-Extracted Genetic Variants

Gene:SEC61A1
Variant:p.S71P

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
Selected Variant
1 paper
NM_013336.4
p.S71P
c.211T>C
Surrounding Variants
2 papers
NM_013336.4
p.S71F
c.212C>T
12 papers
NM_013336.4
p.V67G
c.200T>G
2 papers
NM_013336.4
p.R66K
c.197G>A
2 papers
NM_013336.4
p.R66I
c.197G>T
1 paper
NM_013336.4
p.R66G
c.196A>G
7 papers
NM_013336.4
p.F62Y
c.185T>A
3 papers
NM_013336.4
p.D60G
c.179A>G
1 paper
NM_013336.4
p.S58_A59insG
c.172_176ins3
1 paper
NM_013336.4
p.S58_D60delFs
c.172_178del7
1 paper
NM_013336.4
p.G52R
c.154G>A
1 paper
NM_013336.4
p.G52R
c.154G>C
1 paper
NM_013336.4
p.F51L
c.151T>C
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