Varaico: Literature-Extracted Genetic Variants

PKD1

1,465 papers

RefSeq Summary

This gene encodes a member of the polycystin protein family. The encoded glycoprotein contains a large N-terminal extracellular region, multiple transmembrane domains and a cytoplasmic C-tail. It is a...

Pfam Domains

LRR_8aa 69–127UCSCLeucine rich repeat

WSCaa 180–261UCSCWSC domain

PKDaa 274–352UCSCPKD domain

Lectin_Caa 425–532UCSCLectin C-type domain

PKDaa 934–1013UCSCPKD domain

PKDaa 1021–1122UCSCPKD domain

Gene Aliases

HGNC Name

polycystin 1, transient receptor potential channel interacting

HGNC Alias Symbols

PBP; Pc-1; TRPP1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001009944.3

p.A1421S

c.4261G>T

Surrounding Variants

2 papers

NM_001009944.3

p.E1420*

c.4258G>T

1 paper

NM_001009944.3

p.A1422_P1423insAA

c.4264_4268ins6

6 papers

NM_001009944.3

p.A1422T

c.4264G>A

1 paper

NM_001009944.3

p.T1418_E1419del2

c.4252_4256del6

1 paper

NM_001009944.3

p.A1422fs

c.4264_4265fs

1 paper

NM_001009944.3

p.A1422delFs

c.4264delC

1 paper

NM_001009944.3

p.E1419*

c.4255G>T

1 paper

NM_001009944.3

p.E1419Q

c.4255G>C

1 paper

NM_001009944.3

p.T1424A

c.4270A>G

1 paper

NM_001009944.3

p.P1423delFs

c.4269delG

1 paper

NM_001009944.3

p.F1416insFs

c.4248dupT

2 papers

NM_001009944.3

p.R1425C

c.4273C>T