Varaico: Literature-Extracted Genetic Variants

Gene:ZNRF3
Variant:p.P179L

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
6 papers
NM_001206998.2
p.P179L
c.536C>T
Surrounding Variants
1 paper
NM_001206998.2
p.P179S
c.535C>T
1 paper
NM_001206998.2
p.V180G
c.539T>G
1 paper
NM_001206998.2
p.V183V
c.549G>A
1 paper
NM_001206998.2
p.K184delFs
c.550_551delAA
1 paper
NM_001206998.2
p.A188D
c.563C>A
2 papers
NM_001206998.2
p.A188V
c.563C>T
1 paper
NM_001206998.2
p.L191fs
c.571_572fs
1 paper
NM_001206998.2
p.V195I
c.583G>A
1 paper
NM_001206998.2
p.K197E
c.589A>G
1 paper
NM_001206998.2
p.K199I
c.596A>T
1 paper
NM_001206998.2
p.V200_A201ins1
c.600_601insGTG
1 paper
NM_001206998.2
p.R202*
c.604C>T
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