Varaico: Literature-Extracted Genetic Variants

Gene:RNF4
Variant:p.A80S

RNF4

56 papers

RefSeq Summary

The protein encoded by this gene contains a RING finger motif and acts as a transcription regulator. This protein has been shown to interact with, and inhibit the activity of, TRPS1, a transcription s...

Pfam Domains

zf-RING_2aa 130–177UCSCRing finger domain

Gene Aliases

HGNC Name

ring finger protein 4

HGNC Alias Symbols

RES4-26; SLX5

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002938.5
p.A80S
c.238G>T
Surrounding Variants
1 paper
NM_002938.5
p.R77fs
c.229_230fs
1 paper
NM_002938.5
p.P76fs
c.226_227fs
1 paper
NM_002938.5
p.R75_P76insFs
c.225_226ins16
1 paper
NM_002938.5
p.P84L
c.251C>T
1 paper
NM_002938.5
p.Q85R
c.254A>G
1 paper
NM_002938.5
p.E72D
c.216A>T
1 paper
NM_002938.5
p.E72_R73del1
c.216_218delAAG
1 paper
NM_002938.5
p.D89A
c.266A>C
1 paper
NM_002938.5
p.V93G
c.278T>G
1 paper
NM_002938.5
p.E98_E99insFs
c.294_295ins16
1 paper
NM_002938.5
p.P113S
c.337C>T
2 papers
NM_002938.5
p.D118N
c.352G>A
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