Varaico: Literature-Extracted Genetic Variants

Gene:RNF103
Variant:p.H676Q

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.H676Q
c.2028C>G
Surrounding Variants
1 paper
NM_005667.4
p.H676Q
c.2028C>A
1 paper
NM_005667.4
p.Q677*
c.2029C>T
1 paper
NM_005667.4
p.Q671*
c.2011C>T
1 paper
NM_005667.4
p.K670fs
c.2008_2009fs
2 papers
NM_005667.4
p.K670delFs
c.2009delT
1 paper
NM_005667.4
p.K670fs
c.2008_2009fs
1 paper
NM_005667.4
p.R663W
c.1987C>T
2 papers
NM_005667.4
p.C658F
c.1973G>T
1 paper
NM_005667.4
p.G654V
c.1961G>T
1 paper
NM_005667.4
p.M650T
c.1949T>C
1 paper
NM_005667.4
p.C647F
c.1940G>T
1 paper
NM_005667.4
p.Q645K
c.1933C>A
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