Varaico: Literature-Extracted Genetic Variants

Gene:ERRFI1
Variant:p.L45*

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.L45*
c.134T>G
Surrounding Variants
1 paper
NM_018948.4
p.L45*
c.134T>A
1 paper
NM_018948.4
p.I47I
c.141T>A
1 paper
NM_018948.4
p.N42Splc
c.126-3C>T
1 paper
NM_018948.4
p.P49Q
c.146C>A
1 paper
NM_018948.4
p.A53T
c.157G>A
1 paper
NM_018948.4
p.L56L
c.166C>T
1 paper
NM_018948.4
p.Q61L
c.182A>T
1 paper
NM_018948.4
p.Q61R
c.182A>G
1 paper
NM_018948.4
p.Q61H
c.183G>T
1 paper
NM_018948.4
p.Q61H
c.183G>C
1 paper
NM_018948.4
p.R63C
c.187C>T
1 paper
NM_018948.4
p.R63S
c.187C>A
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