Varaico: Literature-Extracted Genetic Variants

Gene:PKHD1L1
Variant:p.H2479Q

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
4 papers
NM_177531.6
p.H2479Q
c.7437C>A
Surrounding Variants
4 papers
NM_177531.6
p.H2479Q
c.7437C>G
2 papers
NM_177531.6
p.R2473*
c.7417C>T
1 paper
NM_177531.6
p.V2503A
c.7508T>C
1 paper
NM_177531.6
p.A2525S
c.7573G>T
1 paper
NM_177531.6
p.D2530H
c.7588G>C
1 paper
NM_177531.6
p.I2532S
c.7595T>G
1 paper
NM_177531.6
p.S2551C
c.7651A>T
1 paper
NM_177531.6
p.L2553L
c.7659G>A
1 paper
NM_177531.6
p.W2563*
c.7688G>A
1 paper
NM_177531.6
p.W2563*
c.7689G>A
1 paper
NM_177531.6
p.R2572R
c.7714C>A
1 paper
NM_177531.6
p.R2587Q
c.7760G>A
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