Varaico: Literature-Extracted Genetic Variants

Gene:RNF8
Variant:p.V8A

RNF8

117 papers

RefSeq Summary

The protein encoded by this gene contains a RING finger motif and an FHA domain. This protein has been shown to interact with several class II ubiquitin-conjugating enzymes (E2), including UBE2E1/UBCH...

Pfam Domains

FHAaa 38–109UCSCFHA domain
zf-C3HC4_3aa 399–447UCSCZinc finger, C3HC4 type (RING finger)
zf-C3HC4_3aa 399–447UCSCZinc finger, C3HC4 type (RING finger)

Gene Aliases

HGNC Name

ring finger protein 8

HGNC Alias Symbol

KIAA0646

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003958.4
p.V8A
c.23T>C
Surrounding Variants
1 paper
NM_003958.4
p.R12R
c.36C>T
1 paper
NM_003958.4
p.M1V
c.1A>G
1 paper
NM_003958.4
p.C19S
c.55T>A
1 paper
NM_003958.4
p.C19S
c.56G>C
1 paper
NM_003958.4
p.R21G
c.61C>G
1 paper
NM_003958.4
p.R22G
c.64C>G
1 paper
NM_003958.4
p.V23E
c.68T>A
1 paper
NM_003958.4
p.V38A
c.113T>C
1 paper
NM_003958.4
p.V38V
c.114G>T
1 paper
NM_003958.4
p.L50L
c.150G>T
1 paper
NM_003958.4
p.C55F
c.164G>T
1 paper
NM_003958.4
p.C55W
c.165C>G
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