Varaico: Literature-Extracted Genetic Variants

Gene:ZNRF3
Variant:p.S752L

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.S752L
c.2255C>T
Surrounding Variants
1 paper
NM_001206998.2
p.Q751R
c.2252A>G
1 paper
NM_001206998.2
p.Q756*
c.2266C>T
1 paper
NM_001206998.2
p.A746T
c.2236G>A
1 paper
NM_001206998.2
p.L761insFs
c.2282_2283insT
2 papers
NM_001206998.2
p.E741K
c.2221G>A
1 paper
NM_001206998.2
p.H765Y
c.2293C>T
4 papers
NM_001206998.2
p.R768G
c.2302A>G
1 paper
NM_001206998.2
p.H738delFs
c.2212delC
1 paper
NM_001206998.2
p.S731_P745del15
c.2191_2234del45
1 paper
NM_001206998.2
p.Y774C
c.2321A>G
1 paper
NM_001206998.2
p.A725V
c.2174C>T
1 paper
NM_001206998.2
p.C780*
c.2340C>A
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