Varaico: Literature-Extracted Genetic Variants

Gene:PKHD1L1
Variant:p.T122M

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.T122M
c.365C>T
Surrounding Variants
2 papers
NM_177531.6
p.G129S
c.385G>A
1 paper
NM_177531.6
p.V116_G118del0
c.346_354del9
2 papers
NM_177531.6
p.N139_A140Splc
c.417+1G>A
1 paper
NM_177531.6
p.I98T
c.293T>C
1 paper
NM_177531.6
p.S80A
c.238T>G
1 paper
NM_177531.6
p.G72E
c.215G>A
1 paper
NM_177531.6
p.Q61R
c.182A>G
1 paper
NM_177531.6
p.A140A
c.420A>T
1 paper
NM_177531.6
p.G156V
c.467G>T
1 paper
NM_177531.6
p.P158delFs
c.474delA
1 paper
NM_177531.6
p.I164V
c.490A>G
1 paper
NM_177531.6
p.I168I
c.504C>A
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