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

2 papers

NM_001009944.3

p.C1585_D1586delFs

c.4755_4756delCA

Surrounding Variants

1 paper

NM_001009944.3

p.C1585fs

c.4753_4754fs

1 paper

NM_001009944.3

p.C1585*

c.4755T>A

5 papers

NM_001009944.3

p.R1587C

c.4759C>T

1 paper

NM_001009944.3

p.R1587G

c.4759C>G

1 paper

NM_001009944.3

p.R1587H

c.4760G>A

1 paper

NM_001009944.3

p.V1578_R1587del10

c.4732_4760del30

1 paper

NM_001009944.3

p.L1584F

c.4750C>T

3 papers

NM_001009944.3

p.W1582*

c.4746G>A

2 papers

NM_001009944.3

p.W1582S

c.4745G>C

4 papers

NM_001009944.3

p.W1582*

c.4745G>A

1 paper

NM_001009944.3

p.R1579_S1581del3

c.4735_4742del9

1 paper

NM_001009944.3

p.S1581F

c.4742C>T