Varaico: Literature-Extracted Genetic Variants

Gene:PKHD1L1
Variant:p.W3376R

PKHD1L1

279 papers

Pfam Domains

TIGaa 31–130UCSCIPT/TIG domain
TIGaa 146–255UCSCIPT/TIG domain
TIGaa 270–355UCSCIPT/TIG domain
PA14aa 341–491UCSCPA14 domain
TIGaa 1067–1152UCSCIPT/TIG domain
TIGaa 1155–1234UCSCIPT/TIG domain

Gene Aliases

HGNC Name

PKHD1 like 1

HGNC Previous Name

polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_177531.6
p.W3376R
c.10126T>C
Surrounding Variants
1 paper
NM_177531.6
p.W3376R
c.10126T>A
2 papers
NM_177531.6
p.R3381*
c.10141C>T
1 paper
NM_177531.6
p.T3395T
c.10185C>T
1 paper
NM_177531.6
p.E3412Q
c.10234G>C
1 paper
NM_177531.6
p.D3361V
c.10082A>T
1 paper
NM_177531.6
p.G3339S
c.10015G>A
1 paper
NM_177531.6
p.G3333A
c.9998G>C
1 paper
NM_177531.6
p.D3437G
c.10310A>G
1 paper
NM_177531.6
p.P3317S
c.9949C>T
1 paper
NM_177531.6
p.G3443S
c.10327G>A
1 paper
NM_177531.6
p.R3297T
c.9890G>C
1 paper
NM_177531.6
p.P3447L
c.10340C>T
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