Varaico: Literature-Extracted Genetic Variants

Gene:SEC61A1
Variant:p.Y344H

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
8 papers
NM_013336.4
p.Y344H
c.1030T>C
Surrounding Variants
1 paper
NM_013336.4
p.Y343H
c.1027T>C
1 paper
NM_013336.4
p.S350T
c.1048T>A
1 paper
NM_013336.4
p.T327K
c.980C>A
1 paper
NM_013336.4
p.V366G
c.1097T>G
10 papers
NM_013336.4
p.E381*
c.1141G>T
1 paper
NM_013336.4
p.T286M
c.857C>T
1 paper
NM_013336.4
p.N277_L283insFs
c.831_849dup19
1 paper
NM_013336.4
p.R273H
c.818G>A
1 paper
NM_013336.4
p.Y272C
c.815A>G
1 paper
NM_013336.4
p.D264A
c.791A>C
1 paper
NM_013336.4
p.Q397*
c.1189C>T
1 paper
NM_013336.4
p.Q398H
c.1194G>C
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