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

2 papers

NM_138694.4

p.A1513fs

c.4537_4538fs

Surrounding Variants

2 papers

NM_138694.4

p.A1513_V1518del6

c.4537_4553del18

2 papers

NM_138694.4

p.T1512_F1519delFs

c.4536_4555del20

1 paper

NM_138694.4

p.D1521N

c.4561G>A

1 paper

NM_138694.4

p.I1504N

c.4511T>A

1 paper

NM_138694.4

p.L1499L

c.4495C>T

1 paper

NM_138694.4

p.S1498Fs

c.4492_4494delinsAGFs

1 paper

NM_138694.4

p.G1497_S1498insG

c.4489_4493ins3

1 paper

NM_138694.4

p.G1497R

c.4489G>C

2 papers

NM_138694.4

p.G1497R

c.4489G>A

1 paper

NM_138694.4

p.F1531fs

c.4591_4592fs

1 paper

NM_138694.4

p.S1496fs

c.4486_4487fs

1 paper

NM_138694.4

p.T1495delFs

c.4485delG