Varaico: Literature-Extracted Genetic Variants

Gene:ERRFI1
Variant:p.R247K

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
5 papers
NM_018948.4
p.R247K
c.740G>A
Surrounding Variants
1 paper
NM_018948.4
p.R247fs
c.739_740fs
1 paper
NM_018948.4
p.L246fs
c.736_737fs
1 paper
NM_018948.4
p.R245K
c.734G>A
1 paper
NM_018948.4
p.R244Q
c.731G>A
1 paper
NM_018948.4
p.R244*
c.730C>T
1 paper
NM_018948.4
p.R244R
c.730C>A
1 paper
NM_018948.4
p.S251A
c.751T>G
1 paper
NM_018948.4
p.S251*
c.752C>A
1 paper
NM_018948.4
p.P239L
c.716C>T
1 paper
NM_018948.4
p.P238S
c.712C>T
1 paper
NM_018948.4
p.P238A
c.712C>G
1 paper
NM_018948.4
p.P260S
c.778C>T
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