Varaico: Literature-Extracted Genetic Variants

Gene:RNF43
Variant:p.H388Y

RNF43

722 papers

RefSeq Summary

The protein encoded by this gene is a RING-type E3 ubiquitin ligase and is predicted to contain a transmembrane domain, a protease-associated domain, an ectodomain, and a cytoplasmic RING domain. This...

Pfam Domains

ZNRF_3_ectoaa 85–189UCSCZNRF-3 Ectodomain
zf-RING_2aa 270–313UCSCRing finger domain

Gene Aliases

HGNC Name

ring finger protein 43

HGNC Alias Symbols

FLJ20315; RNF124; DKFZp781H0392; URCC

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_017763.6
p.H388Y
c.1162C>T
Surrounding Variants
1 paper
NM_017763.6
p.H388delFs
c.1163_1164delGT
4 papers
NM_017763.6
p.R389H
c.1166G>A
1 paper
NM_017763.6
p.R389fs
c.1165_1166fs
1 paper
NM_017763.6
p.R386W
c.1156C>T
1 paper
NM_017763.6
p.P391R
c.1172C>G
1 paper
NM_017763.6
p.P391H
c.1172C>A
1 paper
NM_017763.6
p.G384R
c.1150G>C
1 paper
NM_017763.6
p.G382D
c.1145G>A
1 paper
NM_017763.6
p.A393_A394insFs
c.1179_1180insT
1 paper
NM_017763.6
p.A394V
c.1181C>T
1 paper
NM_017763.6
p.E380D
c.1140G>T
1 paper
NM_017763.6
p.E380D
c.1140G>C
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