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

5 papers

NM_001009944.3

p.W1839C

c.5517G>T

Surrounding Variants

5 papers

NM_001009944.3

p.W1839C

c.5517G>C

2 papers

NM_001009944.3

p.W1839*

c.5517G>A

2 papers

NM_001009944.3

p.W1839*

c.5516G>A

4 papers

NM_001009944.3

p.W1839R

c.5515T>C

4 papers

NM_001009944.3

p.W1839R

c.5515T>A

1 paper

NM_001009944.3

p.V1841fs

c.5521_5522fs

1 paper

NM_001009944.3

p.W1839_V1841insFs

c.5517_5521dup5

4 papers

NM_001009944.3

p.W1837*

c.5511G>A

5 papers

NM_001009944.3

p.W1837*

c.5510G>A

1 paper

NM_001009944.3

p.P1842T

c.5524C>A

1 paper

NM_001009944.3

p.V1841_P1842delFs

c.5522_5526del5

1 paper

NM_001009944.3

p.G1843fs

c.5527_5528fs