Varaico: Literature-Extracted Genetic Variants

Gene:RNF144A
Variant:p.W245*

RNF144A

38 papers

RefSeq Summary

This gene encodes a member of a family of RING finger domain-containing E3 ubiquitin ligases that also includes parkin and parc. The expression of this gene is induced by DNA damage. The encoded prote...

Pfam Domains

IBRaa 91–156UCSCIBR domain, a half RING-finger domain
IBR_1aa 180–221UCSCIBR domain

Gene Aliases

HGNC Name

ring finger protein 144A

HGNC Previous Symbol

RNF144

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014746.6
p.W245*
c.734G>A
Surrounding Variants
1 paper
NM_014746.6
p.W245*
c.735G>A
1 paper
NM_014746.6
p.T248A
c.742A>G
1 paper
NM_014746.6
p.P231S
c.691C>T
1 paper
NM_014746.6
p.A209V
c.626C>T
2 papers
NM_014746.6
p.R194Q
c.581G>A
1 paper
NM_014746.6
p.V251M
c.751G>A
1 paper
NM_014746.6
p.G252D
c.755G>A
1 paper
NM_014746.6
p.G252A
c.755G>C
1 paper
NM_014746.6
p.I253T
c.758T>C
1 paper
NM_014746.6
p.A255fs
c.763_764fs
1 paper
NM_014746.6
p.G256A
c.767G>C
1 paper
NM_014746.6
p.L260M
c.778C>A
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