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.A1458_E1461del4

c.4372_4382del12

Surrounding Variants

1 paper

NM_001009944.3

p.D1456_V1462delFs

c.4367_4385del19

7 papers

NM_001009944.3

p.Q1463*

c.4387C>T

2 papers

NM_001009944.3

p.V1460delFs

c.4379_4380delCA

2 papers

NM_001009944.3

p.V1460G

c.4379T>G

1 paper

NM_001009944.3

p.V1460fs

c.4378_4379fs

1 paper

NM_001009944.3

p.L1459delFs

c.4376delA

1 paper

NM_001009944.3

p.P1465T

c.4393C>A

1 paper

NM_001009944.3

p.L1459L

c.4375C>T

1 paper

NM_001009944.3

p.P1465insFs

c.4395dupC

1 paper

NM_001009944.3

p.V1466M

c.4396G>A

1 paper

NM_001009944.3

p.V1466fs

c.4396_4397fs

1 paper

NM_001009944.3

p.A1458fs

c.4372_4373fs