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.P1561S

c.4681C>T

Surrounding Variants

1 paper

NM_001009944.3

p.L1562fs

c.4684_4685fs

1 paper

NM_001009944.3

p.L1562P

c.4685T>C

1 paper

NM_001009944.3

p.L1562delFs

c.4685delA

11 papers

NM_001009944.3

p.T1558T

c.4674G>A

1 paper

NM_001009944.3

p.G1564E

c.4691G>A

1 paper

NM_001009944.3

p.R1557H

c.4670G>A

1 paper

NM_001009944.3

p.V1560_G1564delFs

c.4679_4691del13

1 paper

NM_001009944.3

p.S1565R

c.4695C>G

9 papers

NM_001009944.3

p.A1555A

c.4665A>C

1 paper

NM_001009944.3

p.V1559_S1567del0

c.4676_4699del24

1 paper

NM_001009944.3

p.N1554S

c.4661A>G

1 paper

NM_001009944.3

p.V1553del1

c.4657_4659delGAC