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.N830K

c.2490T>A

Surrounding Variants

1 paper

NM_138694.4

p.N830K

c.2490T>G

15 papers

NM_138694.4

p.N830S

c.2489A>G

1 paper

NM_138694.4

p.Y828*

c.2484C>A

32 papers

NM_138694.4

p.V836A

c.2507T>C

3 papers

NM_138694.4

p.D822N

c.2464G>A

1 paper

NM_138694.4

p.V836_D839del0

c.2507_2515del9

1 paper

NM_138694.4

p.Y841fs

c.2521_2522fs

1 paper

NM_138694.4

p.T842insFs

c.2524_2525insCG

1 paper

NM_138694.4

p.N819_N820insT

c.2455_2459ins3

1 paper

NM_138694.4

p.C843S

c.2527T>A

1 paper

NM_138694.4

p.L840_T842delFs

c.2520_2526del7

1 paper

NM_138694.4

p.C843F

c.2528G>T