Varaico: Literature-Extracted Genetic Variants

Gene:PKHD1L1
Variant:p.P216T

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.P216T
c.646C>A
Surrounding Variants
1 paper
NM_177531.6
p.G218*
c.652G>T
1 paper
NM_177531.6
p.I232fs
c.694_695fs
1 paper
NM_177531.6
p.N207K
c.621T>A
1 paper
NM_177531.6
p.N207S
c.620A>G
1 paper
NM_177531.6
p.D206N
c.616G>A
1 paper
NM_177531.6
p.E199Q
c.595G>C
1 paper
NM_177531.6
p.G183E
c.548G>A
1 paper
NM_177531.6
p.A178V
c.533C>T
1 paper
NM_177531.6
p.V172A
c.515T>C
1 paper
NM_177531.6
p.D171Y
c.511G>T
1 paper
NM_177531.6
p.T170S
c.509C>G
1 paper
NM_177531.6
p.T170S
c.508A>T
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