Varaico: Literature-Extracted Genetic Variants

Gene:RNF31
Variant:p.R84delFs

RNF31

247 papers

RefSeq Summary

The protein encoded by this gene contains a RING finger, a motif present in a variety of functionally distinct proteins and known to be involved in protein-DNA and protein-protein interactions. The en...

Pfam Domains

PUB_1aa 1–65UCSCPNGase/UBA- or UBX-containing domain
PUBaa 69–150UCSCPUB domain
UBA_HOIPaa 483–628UCSCHOIP UBA domain pair
UBA_RNF31aa 631–685UCSCE3 ubiquitin-protein ligase RNF31, UBA domain
IBR_1aa 794–843UCSCIBR domain
IBR_1aa 866–925UCSCIBR domain

Gene Aliases

HGNC Name

ring finger protein 31

HGNC Alias Symbols

ZIBRA; FLJ10111; FLJ23501; HOIP; Paul

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_017999.5
p.R84delFs
c.252delC
Surrounding Variants
1 paper
NM_017999.5
p.Y82Y
c.246C>T
1 paper
NM_017999.5
p.E80_Y82ins1
c.239_244dup6
1 paper
NM_017999.5
p.Q90Q
c.270G>A
1 paper
NM_017999.5
p.T74K
c.221C>A
12 papers
NM_017999.5
p.L72P
c.215T>C
1 paper
NM_017999.5
p.N70H
c.208A>C
1 paper
NM_017999.5
p.N102D
c.304A>G
1 paper
NM_017999.5
p.Q113K
c.337C>A
1 paper
NM_017999.5
p.Q113*
c.337C>T
1 paper
NM_017999.5
p.E64D
c.192G>C
1 paper
NM_017999.5
p.E64D
c.192G>T
1 paper
NM_017999.5
p.E64A
c.191A>C
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