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.S2889R

c.8667C>A

Surrounding Variants

1 paper

NM_001009944.3

p.S2889R

c.8667C>G

1 paper

NM_001009944.3

p.S2889R

c.8665A>C

3 papers

NM_001009944.3

p.R2888C

c.8662C>T

1 paper

NM_001009944.3

p.R2888G

c.8662C>G

2 papers

NM_001009944.3

p.H2887delFs

c.8659delG

1 paper

NM_001009944.3

p.H2887fs

c.8659_8660fs

1 paper

NM_001009944.3

p.D2881_R2885delFs

c.8642_8655del14

1 paper

NM_001009944.3

p.S2893insFs

c.8678_8679ins7

2 papers

NM_001009944.3

p.S2893S

c.8679C>G

2 papers

NM_001009944.3

p.A2894T

c.8680G>A

1 paper

NM_001009944.3

p.R2885W

c.8653C>T

1 paper

NM_001009944.3

p.A2894fs

c.8680_8681fs