Varaico: Literature-Extracted Genetic Variants

Gene:ERRFI1
Variant:p.S330L

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
1 paper
NM_018948.4
p.S330L
c.989C>T
Surrounding Variants
2 papers
NM_018948.4
p.S330*
c.989C>A
1 paper
NM_018948.4
p.R331H
c.992G>A
1 paper
NM_018948.4
p.P333L
c.998C>T
1 paper
NM_018948.4
p.L325V
c.973T>G
1 paper
NM_018948.4
p.K336fs
c.1006_1007fs
1 paper
NM_018948.4
p.P324S
c.970C>T
1 paper
NM_018948.4
p.K336_P339delFs
c.1007_1016del10
1 paper
NM_018948.4
p.P320A
c.958C>G
1 paper
NM_018948.4
p.N343S
c.1028A>G
1 paper
NM_018948.4
p.G344R
c.1030G>C
1 paper
NM_018948.4
p.G344R
c.1030G>A
1 paper
NM_018948.4
p.V345I
c.1033G>A
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