Varaico: Literature-Extracted Genetic Variants

Gene:SSR4
Variant:p.E24K

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.E24K
c.70G>A
Surrounding Variants
1 paper
NM_006280.3
p.E24_P29delFs
c.71_87del17
1 paper
NM_006280.3
p.A23fs
c.67_68fs
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
3 papers
NM_006280.3
p.F49_I50delFs
c.147_150del4
NM_001204526.1
p.F60_I61delFs
c.180_183del4
2 papers
NM_006280.3
p.F49fs
c.145_146fs
NM_001204526.1
p.F60fs
c.178_179fs
1 paper
NM_006280.3
p.S54insFs
c.161dupC
1 paper
NM_006280.3
p.L55insFs
c.165dupG
1 paper
NM_006280.3
p.C57_K58delFs
c.171_174del4
1 paper
NM_006280.3
p.K58insFs
c.174dupG
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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."