Varaico: Literature-Extracted Genetic Variants

Gene:SEC61A1
Variant:p.L16del1

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.L16del1
c.46_47delCTG
Surrounding Variants
1 paper
NM_013336.4
p.L16R
c.47T>G
1 paper
NM_013336.4
p.Q20insFs
c.58_59insG
2 papers
NM_013336.4
p.K10insFs
c.28dupA
1 paper
NM_013336.4
p.I9insFs
c.27dupC
2 papers
NM_013336.4
p.I9insFs
c.26_27insG
1 paper
NM_013336.4
p.V8Fs
c.23delinsATFs
2 papers
NM_013336.4
p.I26_Q27insG
c.76_80ins3
1 paper
NM_013336.4
p.A36V
c.107C>T
1 paper
NM_013336.4
p.C45W
c.135C>G
1 paper
NM_013336.4
p.P49R
c.146C>G
1 paper
NM_013336.4
p.F51L
c.151T>C
1 paper
NM_013336.4
p.G52R
c.154G>A
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