Varaico: Literature-Extracted Genetic Variants

Gene:SEC61A1
Variant:p.I246L

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.I246L
c.736A>C
Surrounding Variants
1 paper
NM_013336.4
p.A247P
c.739G>C
1 paper
NM_013336.4
p.A247D
c.740C>A
1 paper
NM_013336.4
p.N244Y
c.730A>T
1 paper
NM_013336.4
p.I249_V255del0
c.746_763del18
1 paper
NM_013336.4
p.L242F
c.724C>T
3 papers
NM_013336.4
p.R236C
c.706C>T
1 paper
NM_013336.4
p.A233A
c.699G>A
1 paper
NM_013336.4
p.R231fs
c.691_692fs
1 paper
NM_013336.4
p.R228*
c.682C>T
1 paper
NM_013336.4
p.D264A
c.791A>C
1 paper
NM_013336.4
p.Y272C
c.815A>G
1 paper
NM_013336.4
p.R273H
c.818G>A
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