Varaico: Literature-Extracted Genetic Variants

Gene:ZNRF3
Variant:p.F462S

ZNRF3

163 papers

Pfam Domains

ZNRF_3_ectoaa 101–208UCSCZNRF-3 Ectodomain
ZNRF_3_ectoaa 101–208UCSCZNRF-3 Ectodomain
zf-RING_11aa 292–320UCSCRING-like zinc finger
zf-RING_11aa 292–320UCSCRING-like zinc finger

Gene Aliases

HGNC Name

zinc and ring finger 3

HGNC Alias Symbols

KIAA1133; BK747E2.3; FLJ22057; RNF203

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001206998.2
p.F462S
c.1385T>C
Surrounding Variants
1 paper
NM_001206998.2
p.E466K
c.1396G>A
1 paper
NM_001206998.2
p.K458Q
c.1372A>C
1 paper
NM_001206998.2
p.Q470K
c.1408C>A
1 paper
NM_001206998.2
p.Q470*
c.1408C>T
1 paper
NM_001206998.2
p.R454H
c.1361G>A
1 paper
NM_001206998.2
p.Y473C
c.1418A>G
1 paper
NM_001206998.2
p.Q475*
c.1423C>T
2 papers
NM_001206998.2
p.R447C
c.1339C>T
1 paper
NM_001206998.2
p.Q482*
c.1444C>T
1 paper
NM_001206998.2
p.E483*
c.1447G>T
1 paper
NM_001206998.2
p.S441F
c.1322C>T
1 paper
NM_001206998.2
p.Y440*
c.1320C>A
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