Varaico: Literature-Extracted Genetic Variants

Gene:SSR4
Variant:p.Q81*

SSR4

31 papers

RefSeq Summary

This gene encodes the delta subunit of the translocon-associated protein complex which is involved in translocating proteins across the endoplasmic reticulum membrane. The encoded protein is located i...

Pfam Domains

TRAP-deltaaa 11–172UCSCTranslocon-associated protein, delta subunit precursor (TRAP-delta)

Gene Aliases

HGNC Name

signal sequence receptor subunit 4

HGNC Alias Symbol

TRAPD

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_006280.3
p.Q81*
c.241C>T
NM_001204526.1
p.Q92*
c.274C>T
Surrounding Variants
1 paper
NM_001204526.1
p.R90Q
c.269G>A
2 papers
NM_001204526.1
p.R90*
c.268C>T
NM_006280.3
p.R79*
c.235C>T
1 paper
NM_006280.3
p.Q87*
c.259C>T
1 paper
NM_006280.3
p.Q74Q
c.222A>G
1 paper
NM_006280.3
p.Q87_V88Splc
c.261+110G>A
3 papers
NM_006280.3
p.W90*
c.269G>A
NM_001204526.1
p.W101*
c.302G>A
3 papers
NM_006280.3
p.W90*
c.270G>A
NM_001204526.1
p.W101*
c.303G>A
3 papers
NM_006280.3
p.L92L
c.274C>T
1 paper
NM_001204526.1
p.D104_F117del0
c.310_351del42
1 paper
NM_001204527.2
p.S104_E117del0
c.310_351del42
5 papers
NM_006280.3
p.T101insFs
c.302dupC
5 papers
NM_006280.3
p.Y102fs
c.304_305fs
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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."