Varaico: Literature-Extracted Genetic Variants

Gene:PKHD1L1
Variant:p.Q2669*

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
2 papers
NM_177531.6
p.Q2669*
c.8005C>T
Surrounding Variants
1 paper
NM_177531.6
p.L2668P
c.8003T>C
1 paper
NM_177531.6
p.L2668I
c.8002C>A
1 paper
NM_177531.6
p.G2666V
c.7997G>T
1 paper
NM_177531.6
p.W2662C
c.7986G>C
1 paper
NM_177531.6
p.W2662C
c.7986G>T
1 paper
NM_177531.6
p.A2644A
c.7932A>G
1 paper
NM_177531.6
p.G2701R
c.8101G>A
2 papers
NM_177531.6
p.G2701R
c.8101G>C
1 paper
NM_177531.6
p.G2636V
c.7907G>T
1 paper
NM_177531.6
p.A2702V
c.8105C>T
2 papers
NM_177531.6
p.T2635M
c.7904C>T
1 paper
NM_177531.6
p.I2704V
c.8110A>G
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