Varaico: Literature-Extracted Genetic Variants

Gene:RNF169
Variant:p.S521R

RNF169

59 papers

Pfam Domains

zf-C3HC4_3aa 64–110UCSCZinc finger, C3HC4 type (RING finger)

Gene Aliases

HGNC Name

ring finger protein 169

HGNC Alias Symbol

KIAA1991

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001098638.2
p.S521R
c.1561A>C
Surrounding Variants
1 paper
NM_001098638.2
p.S521R
c.1563C>A
1 paper
NM_001098638.2
p.S521R
c.1563C>G
1 paper
NM_001098638.2
p.G536A
c.1607G>C
1 paper
NM_001098638.2
p.E544K
c.1630G>A
1 paper
NM_001098638.2
p.Q547R
c.1640A>G
1 paper
NM_001098638.2
p.V480G
c.1439T>G
1 paper
NM_001098638.2
p.A450D
c.1349C>A
1 paper
NM_001098638.2
p.N603D
c.1807A>G
1 paper
NM_001098638.2
p.E425E
c.1275G>A
1 paper
NM_001098638.2
p.E425D
c.1275G>C
1 paper
NM_001098638.2
p.E425D
c.1275G>T
1 paper
NM_001098638.2
p.Q421fs
c.1261_1262fs
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