Varaico: Literature-Extracted Genetic Variants

Gene:SSR1
Variant:p.E48V

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.E48V
c.143A>T
Surrounding Variants
1 paper
NM_003144.5
p.E37Q
c.109G>C
1 paper
NM_003144.5
p.T36R
c.107C>G
1 paper
NM_003144.5
p.A30T
c.88G>A
3 papers
NM_003144.5
p.L28S
c.83T>C
1 paper
NM_003144.5
p.L12L
c.34T>C
1 paper
NM_003144.5
p.R6G
c.16C>G
1 paper
NM_003144.5
p.M1K
c.2T>A
1 paper
NM_003144.5
p.V90L
c.268G>T
1 paper
NM_003144.5
p.V90L
c.268G>C
1 paper
NM_003144.5
p.G106D
c.317G>A
1 paper
NM_003144.5
p.E113Q
c.337G>C
1 paper
NM_003144.5
p.V146V
c.438G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."