Varaico: Literature-Extracted Genetic Variants

Gene:PKHD1L1

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
1–12 of 507 variants
4 papers
NM_177531.6
p.Y440H
c.1318T>C
4 papers
NM_177531.6
p.G2416Splc
c.7246+1G>C
4 papers
NM_177531.6
p.H2479Q
c.7437C>A
4 papers
NM_177531.6
p.H2479Q
c.7437C>G
4 papers
NM_177531.6
p.R3864C
c.11590C>T
3 papers
NM_177531.6
p.L2169_D2170Splc
c.6507+1G>A
3 papers
NM_177531.6
p.R2846H
c.8537G>A
3 papers
NM_177531.6
p.A3103P
c.9307G>C
3 papers
NM_177531.6
p.G3270S
c.9808G>A
3 papers
NM_177531.6
p.R3279C
c.9835C>T
3 papers
NM_177531.6
p.N4041Y
c.12121A>T
2 papers
NM_177531.6
p.G129S
c.385G>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."