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.L3495P

c.10484T>C

Surrounding Variants

2 papers

NM_138694.4

p.L3495F

c.10483C>T

1 paper

NM_138694.4

p.L3494fs

c.10480_10481fs

1 paper

NM_138694.4

p.L3496W

c.10487T>G

1 paper

NM_138694.4

p.A3497D

c.10490C>A

1 paper

NM_138694.4

p.V3498A

c.10493T>C

1 paper

NM_138694.4

p.S3490T

c.10469G>C

1 paper

NM_138694.4

p.L3494_H3501delFs

c.10481_10503del23

2 papers

NM_138694.4

p.L3486L

c.10456T>C

9 papers

NM_138694.4

p.S3505R

c.10513A>C

1 paper

NM_138694.4

p.L3485fs

c.10453_10454fs

3 papers

NM_138694.4

p.S3505S

c.10515C>T

9 papers

NM_138694.4

p.S3505R

c.10515C>G