Varaico: Literature-Extracted Genetic Variants

PKHD1

1,102 papers

RefSeq Summary

The protein encoded by this gene is predicted to have a single transmembrane (TM)-spanning domain and multiple copies of an immunoglobulin-like plexin-transcription-factor domain. Alternative splicing...

Pfam Domains

TIGaa 259–335UCSCIPT/TIG domain

TIGaa 931–1012UCSCIPT/TIG domain

TIGaa 1019–1102UCSCIPT/TIG domain

TIGaa 1108–1192UCSCIPT/TIG domain

TIGaa 1197–1278UCSCIPT/TIG domain

TIGaa 1389–1480UCSCIPT/TIG domain

Gene Aliases

HGNC Name

PKHD1 ciliary IPT domain containing fibrocystin/polyductin

HGNC Previous Symbol

TIGM1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_138694.4

p.Q1952P

c.5855A>C

Surrounding Variants

1 paper

NM_138694.4

p.G1951fs

c.5851_5852fs

1 paper

NM_138694.4

p.N1950_G1951insFs

c.5850_5851ins5

1 paper

NM_138694.4

p.G1951S

c.5851G>A

1 paper

NM_138694.4

p.G1951fs

c.5851_5852fs

1 paper

NM_138694.4

p.V1948fs

c.5842_5843fs

1 paper

NM_138694.4

p.V1948delFs

c.5842delC

5 papers

NM_138694.4

p.D1957N

c.5869G>A

1 paper

NM_138694.4

p.D1957G

c.5870A>G

1 paper

NM_138694.4

p.D1957insFs

c.5869_5870dupGA

1 paper

NM_138694.4

p.T1947_V1948insA

c.5839_5843ins3

1 paper

NM_138694.4

p.T1958S

c.5872A>T

1 paper

NM_138694.4

p.T1958S

c.5873C>G