Varaico: Literature-Extracted Genetic Variants

Gene:PKHD1L1
Variant:p.P3447L

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.P3447L
c.10340C>T
Surrounding Variants
1 paper
NM_177531.6
p.T3480N
c.10439C>A
1 paper
NM_177531.6
p.W3482*
c.10445G>A
2 papers
NM_177531.6
p.W3482*
c.10446G>A
1 paper
NM_177531.6
p.S3496N
c.10487G>A
1 paper
NM_177531.6
p.V3505I
c.10513G>A
1 paper
NM_177531.6
p.G3539R
c.10615G>A
1 paper
NM_177531.6
p.G3539R
c.10615G>C
1 paper
NM_177531.6
p.R3564P
c.10691G>C
1 paper
NM_177531.6
p.G3572E
c.10715G>A
1 paper
NM_177531.6
p.G3572G
c.10716G>A
1 paper
NM_177531.6
p.R3573I
c.10718G>T
1 paper
NM_177531.6
p.W3578G
c.10732T>G
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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."