Varaico: Literature-Extracted Genetic Variants

Gene:ERRFI1
Variant:p.P128H

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.P128H
c.383C>A
Surrounding Variants
1 paper
NM_018948.4
p.P129S
c.385C>T
1 paper
NM_018948.4
p.P129insFs
c.386dupC
2 papers
NM_018948.4
p.N135fs
c.403_404fs
2 papers
NM_018948.4
p.N135fs
c.403_404fs
2 papers
NM_018948.4
p.N135delFs
c.404delT
1 paper
NM_018948.4
p.S136S
c.408C>T
1 paper
NM_018948.4
p.L118F
c.352C>T
1 paper
NM_018948.4
p.S138fs
c.412_413fs
1 paper
NM_018948.4
p.K117N
c.351A>T
1 paper
NM_018948.4
p.K117N
c.351A>C
1 paper
NM_018948.4
p.K117T
c.350A>C
1 paper
NM_018948.4
p.S138_L139delFs
c.413_417del5
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