Varaico: Literature-Extracted Genetic Variants

Gene:RNF41
Variant:p.H36Q

RNF41

24 papers

RefSeq Summary

This gene encodes an E3 ubiquitin ligase. The encoded protein plays a role in type 1 cytokine receptor signaling by controlling the balance between JAK2-associated cytokine receptor degradation and ec...

Pfam Domains

zf-C3HC4_2aa 17–55UCSCZinc finger, C3HC4 type (RING finger)
USP8_interactaa 137–315UCSCUSP8 interacting

Gene Aliases

HGNC Name

ring finger protein 41

HGNC Alias Symbols

SBBI03; NRDP1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
5 papers
NM_005785.4
p.H36Q
c.108T>A
Surrounding Variants
5 papers
NM_005785.4
p.H36Q
c.108T>G
5 papers
NM_005785.4
p.C34S
c.101G>C
5 papers
NM_005785.4
p.C34S
c.100T>A
1 paper
NM_005785.4
p.P54L
c.161C>T
1 paper
NM_005785.4
p.D56N
c.166G>A
1 paper
NM_005785.4
p.V60M
c.178G>A
1 paper
NM_005785.4
p.T61M
c.182C>T
1 paper
NM_005785.4
p.T61K
c.182C>A
1 paper
NM_005785.4
p.P67L
c.200C>T
1 paper
NM_005785.4
p.P69S
c.205C>T
1 paper
NM_005785.4
p.R70L
c.209G>T
1 paper
NM_005785.4
p.R73W
c.217C>T
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