Varaico: Literature-Extracted Genetic Variants

Gene:PKHD1L1
Variant:p.H3234Y

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.H3234Y
c.9700C>T
Surrounding Variants
1 paper
NM_177531.6
p.V3241D
c.9722T>A
1 paper
NM_177531.6
p.I3256T
c.9767T>C
1 paper
NM_177531.6
p.N3260D
c.9778A>G
1 paper
NM_177531.6
p.V3264I
c.9790G>A
3 papers
NM_177531.6
p.G3270S
c.9808G>A
3 papers
NM_177531.6
p.R3279C
c.9835C>T
1 paper
NM_177531.6
p.M3289I
c.9867G>A
1 paper
NM_177531.6
p.M3289I
c.9867G>C
1 paper
NM_177531.6
p.M3289I
c.9867G>T
1 paper
NM_177531.6
p.G3294Splc
c.9880+1G>A
1 paper
NM_177531.6
p.S3180F
c.9539C>T
1 paper
NM_177531.6
p.A3178S
c.9532G>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."