Varaico: Literature-Extracted Genetic Variants

Gene:PKHD1L1
Variant:p.W2563*

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.W2563*
c.7689G>A
Surrounding Variants
1 paper
NM_177531.6
p.W2563*
c.7688G>A
1 paper
NM_177531.6
p.R2572R
c.7714C>A
1 paper
NM_177531.6
p.L2553L
c.7659G>A
1 paper
NM_177531.6
p.S2551C
c.7651A>T
1 paper
NM_177531.6
p.R2587Q
c.7760G>A
1 paper
NM_177531.6
p.D2593N
c.7777G>A
1 paper
NM_177531.6
p.I2532S
c.7595T>G
1 paper
NM_177531.6
p.Y2597H
c.7789T>C
1 paper
NM_177531.6
p.D2530H
c.7588G>C
1 paper
NM_177531.6
p.D2598H
c.7792G>C
1 paper
NM_177531.6
p.I2601F
c.7801A>T
1 paper
NM_177531.6
p.A2525S
c.7573G>T
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