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.M2764R

c.8291T>G

Surrounding Variants

9 papers

NM_001009944.3

p.M2764T

c.8291T>C

29 papers

NM_001009944.3

p.R2765C

c.8293C>T

1 paper

NM_001009944.3

p.R2765_S2766ins4

c.8293_8297ins12

2 papers

NM_001009944.3

p.R2765H

c.8294G>A

3 papers

NM_001009944.3

p.L2763V

c.8287C>G

1 paper

NM_001009944.3

p.R2765_S2766ins4

c.8295_8296ins12

1 paper

NM_001009944.3

p.R2765_S2766ins4

c.8295_8296ins12

1 paper

NM_001009944.3

p.I2762_R2765ins1

c.8284_8295dup12

1 paper

NM_001009944.3

p.S2766P

c.8296T>C

5 papers

NM_001009944.3

p.A2758_I2762del0

c.8274_8285del12

1 paper

NM_001009944.3

p.I2762fs

c.8284_8285fs

1 paper

NM_001009944.3

p.I2762delFs

c.8285delA