Varaico: Literature-Extracted Genetic Variants

Gene:PKHD1L1
Variant:p.Y440H

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.Y440H
c.1318T>C
Surrounding Variants
2 papers
NM_177531.6
p.N436K
c.1308T>A
2 papers
NM_177531.6
p.N436K
c.1308T>G
1 paper
NM_177531.6
p.T445I
c.1334C>T
1 paper
NM_177531.6
p.S434Y
c.1301C>A
1 paper
NM_177531.6
p.L453P
c.1358T>C
1 paper
NM_177531.6
p.K455Q
c.1363A>C
1 paper
NM_177531.6
p.G456*
c.1366G>T
1 paper
NM_177531.6
p.R413H
c.1238G>A
1 paper
NM_177531.6
p.D412Y
c.1234G>T
1 paper
NM_177531.6
p.R391H
c.1172G>A
1 paper
NM_177531.6
p.T365T
c.1095G>A
1 paper
NM_177531.6
p.E363Q
c.1087G>C
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