Varaico: Literature-Extracted Genetic Variants

Gene:ERRFI1
Variant:p.R202C

ERRFI1

147 papers

RefSeq Summary

ERRFI1 is a cytoplasmic protein whose expression is upregulated with cell growth (Wick et al., 1995 [PubMed 7641805]). It shares significant homology with the protein product of rat gene-33, which is ...

Pfam Domains

GTPase_bindingaa 6–69UCSCGTPase binding

Gene Aliases

HGNC Name

ERBB receptor feedback inhibitor 1

HGNC Alias Symbols

MIG-6; GENE-33; RALT

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_018948.4
p.R202C
c.604C>T
Surrounding Variants
1 paper
NM_018948.4
p.R199Q
c.596G>A
1 paper
NM_018948.4
p.R199*
c.595C>T
1 paper
NM_018948.4
p.N208fs
c.622_623fs
1 paper
NM_018948.4
p.D194Y
c.580G>T
1 paper
NM_018948.4
p.A210T
c.628G>A
1 paper
NM_018948.4
p.K192_Y193del1
c.576_578delTAT
1 paper
NM_018948.4
p.F191Y
c.572T>A
1 paper
NM_018948.4
p.S189delFs
c.566_567delAG
1 paper
NM_018948.4
p.S189fs
c.565_566fs
1 paper
NM_018948.4
p.S189insFs
c.565dupT
2 papers
NM_018948.4
p.S186fs
c.556_557fs
1 paper
NM_018948.4
p.E184*
c.550G>T
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