Varaico: Literature-Extracted Genetic Variants

Gene:PKHD1L1
Variant:p.S2841*

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.S2841*
c.8522C>G
Surrounding Variants
1 paper
NM_177531.6
p.S2841*
c.8522C>A
1 paper
NM_177531.6
p.A2840T
c.8518G>A
3 papers
NM_177531.6
p.R2846H
c.8537G>A
1 paper
NM_177531.6
p.F2833F
c.8499C>T
1 paper
NM_177531.6
p.E2828K
c.8482G>A
1 paper
NM_177531.6
p.A2827P
c.8479G>C
1 paper
NM_177531.6
p.T2824A
c.8470A>G
1 paper
NM_177531.6
p.P2820S
c.8458C>T
2 papers
NM_177531.6
p.L2818_C2823delFs
c.8452_8468del17
1 paper
NM_177531.6
p.D2800N
c.8398G>A
1 paper
NM_177531.6
p.T2782I
c.8345C>T
1 paper
NM_177531.6
p.G2769D
c.8306G>A
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