Varaico: Literature-Extracted Genetic Variants

Gene:PKHD1L1
Variant:p.G4111S

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.G4111S
c.12331G>A
Surrounding Variants
1 paper
NM_177531.6
p.G4111G
c.12333T>C
1 paper
NM_177531.6
p.S4115*
c.12344C>A
1 paper
NM_177531.6
p.S4115*
c.12344C>G
1 paper
NM_177531.6
p.L4121fs
c.12361_12362fs
1 paper
NM_177531.6
p.A4151A
c.12453C>G
1 paper
NM_177531.6
p.D4110_G4111Splc
c.12330+1G>A
1 paper
NM_177531.6
p.D4110_G4111Splc
c.12330+1G>T
1 paper
NM_177531.6
p.V4104I
c.12310G>A
1 paper
NM_177531.6
p.Q4096Q
c.12288G>A
1 paper
NM_177531.6
p.V4080E
c.12239T>A
1 paper
NM_177531.6
p.P4073S
c.12217C>T
3 papers
NM_177531.6
p.N4041Y
c.12121A>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."