Varaico: Literature-Extracted Genetic Variants

Gene:ZNRF3
Variant:p.R334L

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.R334L
c.1001G>T
Surrounding Variants
1 paper
NM_001206998.2
p.R334W
c.1000C>T
1 paper
NM_001206998.2
p.C333*
c.999T>A
2 papers
NM_001206998.2
p.C333S
c.998G>C
2 papers
NM_001206998.2
p.C333S
c.997T>A
1 paper
NM_001206998.2
p.C333R
c.997T>C
1 paper
NM_001206998.2
p.H332fs
c.994_995fs
1 paper
NM_001206998.2
p.P331H
c.992C>A
2 papers
NM_001206998.2
p.P331L
c.992C>T
1 paper
NM_001206998.2
p.P331A
c.991C>G
2 papers
NM_001206998.2
p.C330Y
c.989G>A
1 paper
NM_001206998.2
p.I338M
c.1014A>G
1 paper
NM_001206998.2
p.E339*
c.1015G>T
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