Varaico: Literature-Extracted Genetic Variants

Gene:SSR1
Variant:p.Q227H

SSR1

37 papers

RefSeq Summary

The signal sequence receptor (SSR) is a glycosylated endoplasmic reticulum (ER) membrane receptor associated with protein translocation across the ER membrane. The SSR consists of 2 subunits, a 34-kD ...

Pfam Domains

TRAP_alphaaa 71–192UCSCTranslocon-associated protein (TRAP), alpha subunit

Gene Aliases

HGNC Name

signal sequence receptor subunit 1

HGNC Alias Symbol

TRAPA

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003144.5
p.Q227H
c.681A>T
Surrounding Variants
1 paper
NM_003144.5
p.Q227H
c.681A>C
1 paper
NM_003144.5
p.S231C
c.692C>G
1 paper
NM_003144.5
p.G218G
c.654G>T
1 paper
NM_003144.5
p.Y211F
c.632A>T
1 paper
NM_003144.5
p.E206G
c.617A>G
1 paper
NM_003144.5
p.I197T
c.590T>C
1 paper
NM_003144.5
p.N191fs
c.571_572fs
1 paper
NM_003144.5
p.D250N
c.748G>A
1 paper
NM_003144.5
p.D252H
c.754G>C
1 paper
NM_003144.5
p.E259K
c.775G>A
1 paper
NM_003144.5
p.A161P
c.481G>C
1 paper
NM_003144.5
p.P148L
c.443C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."