Varaico: Literature-Extracted Genetic Variants

Gene:ZNRF3
Variant:p.S683L

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.S683L
c.2048C>T
Surrounding Variants
1 paper
NM_001206998.2
p.N679fs
c.2035_2036fs
1 paper
NM_001206998.2
p.P691S
c.2071C>T
1 paper
NM_001206998.2
p.H675Y
c.2023C>T
1 paper
NM_001206998.2
p.E674K
c.2020G>A
1 paper
NM_001206998.2
p.E674fs
c.2020_2021fs
1 paper
NM_001206998.2
p.S669I
c.2006G>T
1 paper
NM_001206998.2
p.Y667H
c.1999T>C
1 paper
NM_001206998.2
p.N666fs
c.1996_1997fs
1 paper
NM_001206998.2
p.W701*
c.2102G>A
1 paper
NM_001206998.2
p.W701*
c.2103G>A
1 paper
NM_001206998.2
p.K702fs
c.2104_2105fs
1 paper
NM_001206998.2
p.E664D
c.1992G>C
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