Varaico: Literature-Extracted Genetic Variants

Gene:PKHD1L1
Variant:p.V2157A

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.V2157A
c.6470T>C
Surrounding Variants
1 paper
NM_177531.6
p.R2162I
c.6485G>T
1 paper
NM_177531.6
p.G2165S
c.6493G>A
1 paper
NM_177531.6
p.D2147V
c.6440A>T
3 papers
NM_177531.6
p.L2169_D2170Splc
c.6507+1G>A
1 paper
NM_177531.6
p.N2138S
c.6413A>G
1 paper
NM_177531.6
p.E2135V
c.6404A>T
2 papers
NM_177531.6
p.K2189delFs
c.6567delA
1 paper
NM_177531.6
p.G2188G
c.6564A>G
1 paper
NM_177531.6
p.P2192S
c.6574C>T
1 paper
NM_177531.6
p.E2193K
c.6577G>A
1 paper
NM_177531.6
p.S2196F
c.6587C>T
1 paper
NM_177531.6
p.G2203E
c.6608G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."