Varaico: Literature-Extracted Genetic Variants

Gene:PKHD1L1
Variant:p.A3103P

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
3 papers
NM_177531.6
p.A3103P
c.9307G>C
Surrounding Variants
1 paper
NM_177531.6
p.T3104I
c.9311C>T
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
1 paper
NM_177531.6
p.M3069fs
c.9205_9206fs
1 paper
NM_177531.6
p.M3069insFs
c.9205dupA
1 paper
NM_177531.6
p.D3068V
c.9203A>T
1 paper
NM_177531.6
p.W3062*
c.9186G>A
1 paper
NM_177531.6
p.W3062*
c.9185G>A
1 paper
NM_177531.6
p.G3052W
c.9154G>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."