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

7 papers

NM_001009944.3

p.Q2243delFs

c.6727_6728delTG

Surrounding Variants

1 paper

NM_001009944.3

p.Q2243H

c.6729G>T

1 paper

NM_001009944.3

p.Q2243fs

c.6727_6728fs

1 paper

NM_001009944.3

p.Q2243H

c.6729G>C

7 papers

NM_001009944.3

p.S2244fs

c.6730_6731fs

2 papers

NM_001009944.3

p.S2244R

c.6730A>C

2 papers

NM_001009944.3

p.Q2243_S2244delFs

c.6727_6730del4

6 papers

NM_001009944.3

p.Q2243fs

c.6727_6728fs

13 papers

NM_001009944.3

p.Q2243*

c.6727C>T

2 papers

NM_001009944.3

p.S2244R

c.6732C>G

2 papers

NM_001009944.3

p.S2244fs

c.6730_6731fs

2 papers

NM_001009944.3

p.S2244R

c.6732C>A

9 papers

NM_001009944.3

p.S2244delFs

c.6730_6731delCT