Varaico: Literature-Extracted Genetic Variants

Gene:PKHD1L1
Variant:p.G2416Splc

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.G2416Splc
c.7246+1G>C
Surrounding Variants
1 paper
NM_177531.6
p.A2408T
c.7222G>A
1 paper
NM_177531.6
p.P2407S
c.7219C>T
1 paper
NM_177531.6
p.W2402R
c.7204T>A
1 paper
NM_177531.6
p.W2402R
c.7204T>C
1 paper
NM_177531.6
p.S2397Y
c.7190C>A
1 paper
NM_177531.6
p.V2385V
c.7155T>C
1 paper
NM_177531.6
p.R2382G
c.7144A>G
1 paper
NM_177531.6
p.D2375H
c.7123G>C
1 paper
NM_177531.6
p.G2368E
c.7103G>A
1 paper
NM_177531.6
p.Q2338*
c.7012C>T
1 paper
NM_177531.6
p.L2424I
c.7270C>A
1 paper
NM_177531.6
p.P2446L
c.7337C>T
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