Varaico: Literature-Extracted Genetic Variants

Gene:PKHD1L1
Variant:p.F3859V

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.F3859V
c.11575T>G
Surrounding Variants
1 paper
NM_177531.6
p.Q3863E
c.11587C>G
4 papers
NM_177531.6
p.R3864C
c.11590C>T
1 paper
NM_177531.6
p.A3852V
c.11555C>T
1 paper
NM_177531.6
p.L3865F
c.11595G>C
1 paper
NM_177531.6
p.L3865F
c.11595G>T
1 paper
NM_177531.6
p.K3851_A3852Splc
c.11554-2A>T
1 paper
NM_177531.6
p.H3887H
c.11661C>T
1 paper
NM_177531.6
p.C3888Y
c.11663G>A
1 paper
NM_177531.6
p.E3889G
c.11666A>G
1 paper
NM_177531.6
p.L3890F
c.11668C>T
1 paper
NM_177531.6
p.K3925*
c.11773A>T
1 paper
NM_177531.6
p.A3935S
c.11803G>T
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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."