Varaico: Literature-Extracted Genetic Variants

Gene:ZNRF3
Variant:p.P648L

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.P648L
c.1943C>T
Surrounding Variants
1 paper
NM_001206998.2
p.S652A
c.1954T>G
2 papers
NM_001206998.2
p.D656delFs
c.1966delG
1 paper
NM_001206998.2
p.G655E
c.1964G>A
1 paper
NM_001206998.2
p.D656fs
c.1966_1967fs
1 paper
NM_001206998.2
p.D656fs
c.1966_1967fs
1 paper
NM_001206998.2
p.Q657*
c.1969C>T
2 papers
NM_001206998.2
p.S659C
c.1976C>G
1 paper
NM_001206998.2
p.V636fs
c.1906_1907fs
1 paper
NM_001206998.2
p.A635P
c.1903G>C
1 paper
NM_001206998.2
p.P634P
c.1902G>A
1 paper
NM_001206998.2
p.E664D
c.1992G>C
1 paper
NM_001206998.2
p.E664D
c.1992G>T
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