Varaico: Literature-Extracted Genetic Variants

Gene:SSR4
Variant:p.A23Splc

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.A23Splc
c.67+2T>C
Surrounding Variants
1 paper
NM_001204526.1
p.S27fs
c.79_80fs
2 papers
NM_001204526.1
p.S27_C32delFs
c.80_96del17
NM_006280.3
p.S16_C21delFs
c.47_63del17
1 paper
NM_006280.3
p.A3S
c.7G>T
1 paper
NM_006280.3
p.A2T
c.4G>A
2 papers
NM_006280.3
p.M1T
c.2T>C
1 paper
NM_006280.3
p.A23fs
c.67_68fs
1 paper
NM_006280.3
p.E24K
c.70G>A
1 paper
NM_006280.3
p.E24_P29delFs
c.71_87del17
2 papers
NM_006280.3
p.L27_T32delFs
c.80_96del17
1 paper
NM_006280.3
p.C26*
c.78C>A
1 paper
NM_006280.3
p.P33delFs
c.98delC
2 papers
NM_006280.3
p.T47insFs
c.141dupC
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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."