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.I1471_K1472delFs

c.4412_4415del4

Surrounding Variants

1 paper

NM_001009944.3

p.K1472*

c.4414A>T

1 paper

NM_001009944.3

p.I1471M

c.4413C>G

1 paper

NM_001009944.3

p.V1473delFs

c.4419delG

1 paper

NM_001009944.3

p.N1474insFs

c.4421_4422insT

1 paper

NM_001009944.3

p.L1467_T1469delFs

c.4401_4407del7

1 paper

NM_001009944.3

p.S1476Y

c.4427C>A

2 papers

NM_001009944.3

p.L1477delFs

c.4429delG

2 papers

NM_001009944.3

p.L1479fs

c.4435_4436fs

1 paper

NM_001009944.3

p.G1478delFs

c.4434delC

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