Varaico: Literature-Extracted Genetic Variants

Gene:RNF103
Variant:p.S539L

RNF103

57 papers

RefSeq Summary

The protein encoded by this gene contains a RING-H2 finger, a motif known to be involved in protein-protein and protein-DNA interactions. This gene is highly expressed in normal cerebellum, but not in...

Pfam Domains

zf-RING_2aa 619–663UCSCRing finger domain

Gene Aliases

HGNC Name

ring finger protein 103

HGNC Previous Symbol

ZFP103

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005667.4
p.S539L
c.1616C>T
Surrounding Variants
1 paper
NM_005667.4
p.D545G
c.1634A>G
1 paper
NM_005667.4
p.Q523H
c.1569G>T
1 paper
NM_005667.4
p.Q523H
c.1569G>C
1 paper
NM_005667.4
p.D556Y
c.1666G>T
1 paper
NM_005667.4
p.D556N
c.1666G>A
1 paper
NM_005667.4
p.R516*
c.1546C>T
1 paper
NM_005667.4
p.N563S
c.1688A>G
1 paper
NM_005667.4
p.P502H
c.1505C>A
1 paper
NM_005667.4
p.C583W
c.1749T>G
1 paper
NM_005667.4
p.R492R
c.1476C>G
1 paper
NM_005667.4
p.E484K
c.1450G>A
1 paper
NM_005667.4
p.D481N
c.1441G>A
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