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

1–12 of 3197 variants

116 papers

NM_138694.4

p.T36M

c.107C>T

58 papers

NM_138694.4

p.R1624W

c.4870C>T

35 papers

NM_138694.4

p.I222V

c.664A>G

32 papers

NM_138694.4

p.V836A

c.2507T>C

30 papers

NM_138694.4

p.L1965insFs

c.5895dupA

28 papers

NM_138694.4

p.I2957T

c.8870T>C

26 papers

NM_138694.4

p.R496*

c.1486C>T

24 papers

NM_138694.4

p.I2331K

c.6992T>A

23 papers

NM_138694.4

p.R781*

c.2341C>T

23 papers

NM_138694.4

p.D3230delFs

c.9689delT

20 papers

NM_138694.4

p.T2869K

c.8606C>A

19 papers

NM_138694.4

p.R3482C

c.10444C>T