Varaico: Literature-Extracted Genetic Variants

Gene:PKHD1L1
Variant:p.E3118*

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.E3118*
c.9352G>T
Surrounding Variants
1 paper
NM_177531.6
p.G3115R
c.9343G>C
1 paper
NM_177531.6
p.G3110fs
c.9328_9329fs
1 paper
NM_177531.6
p.G3110delFs
c.9329delG
1 paper
NM_177531.6
p.W3139C
c.9417G>C
1 paper
NM_177531.6
p.W3139C
c.9417G>T
1 paper
NM_177531.6
p.T3104I
c.9311C>T
3 papers
NM_177531.6
p.A3103P
c.9307G>C
1 paper
NM_177531.6
p.W3078insFs
c.9233dupG
1 paper
NM_177531.6
p.W3078fs
c.9232_9233fs
1 paper
NM_177531.6
p.M3072I
c.9216G>A
1 paper
NM_177531.6
p.M3072I
c.9216G>C
1 paper
NM_177531.6
p.M3072I
c.9216G>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."