Varaico: Literature-Extracted Genetic Variants

Gene:SSR4
Variant:p.I171_*174del4

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
1 paper
NM_006280.3
p.I171_*174del4
c.511_521del12
Surrounding Variants
1 paper
NM_001204526.1
p.S180_Q183del4
c.538_548del12
2 papers
NM_006280.3
p.V147_E150del4
c.439_449del12
1 paper
NM_006280.3
p.G144R
c.430G>A
1 paper
NM_006280.3
p.G144R
c.430G>C
2 papers
NM_006280.3
p.R139_G140Splc
c.418-1G>C
1 paper
NM_001204526.1
p.R150_G151Splc
c.451-2A>G
5 papers
NM_006280.3
p.R139_G140Splc
c.417+1G>A
1 paper
NM_006280.3
p.L131delFs
c.391_392delCT
1 paper
NM_006280.3
p.I128delFs
c.382_383delAT
3 papers
NM_006280.3
p.R120fs
c.358_359fs
4 papers
NM_006280.3
p.R120delFs
c.358_359delAG
1 paper
NM_006280.3
p.A118fs
c.352_353fs
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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."