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

5 papers

NM_138694.4

p.R1419delFs

c.4256_4257delCC

Surrounding Variants

4 papers

NM_138694.4

p.R1419fs

c.4255_4256fs

1 paper

NM_138694.4

p.V1421F

c.4261G>T

1 paper

NM_138694.4

p.R1418M

c.4253G>T

1 paper

NM_138694.4

p.R1422Q

c.4265G>A

1 paper

NM_138694.4

p.R1422delFs

c.4264delG

1 paper

NM_138694.4

p.S1416P

c.4246T>C

6 papers

NM_138694.4

p.L1425R

c.4274T>G

1 paper

NM_138694.4

p.S1426L

c.4277C>T

1 paper

NM_138694.4

p.G1427delFs

c.4280delC

1 paper

NM_138694.4

p.P1428L

c.4283C>T

1 paper

NM_138694.4

p.C1431S

c.4291T>A

1 paper

NM_138694.4

p.V1409fs

c.4225_4226fs