Varaico: Literature-Extracted Genetic Variants

Gene:SEC61A1
Variant:p.P83H

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.P83H
c.248C>A
Surrounding Variants
2 papers
NM_013336.4
p.S82Y
c.245C>A
1 paper
NM_013336.4
p.S82F
c.245C>T
1 paper
NM_013336.4
p.S82P
c.244T>C
12 papers
NM_013336.4
p.V85D
c.254T>A
1 paper
NM_013336.4
p.T86M
c.257C>T
1 paper
NM_013336.4
p.G80W
c.238G>T
1 paper
NM_013336.4
p.E78K
c.232G>A
1 paper
NM_013336.4
p.I90T
c.269T>C
9 papers
NM_013336.4
p.Q92R
c.275A>G
1 paper
NM_013336.4
p.L93_A97delins
c.278_289delinsCCGCCTCCT
1 paper
NM_013336.4
p.L94V
c.280T>G
1 paper
NM_013336.4
p.V102I
c.304G>A
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