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.P1168R

c.3503C>G

Surrounding Variants

6 papers

NM_001009944.3

p.P1168S

c.3502C>T

1 paper

NM_001009944.3

p.P1168A

c.3502C>G

1 paper

NM_001009944.3

p.P1168delFs

c.3503_3504delAG

1 paper

NM_001009944.3

p.G1166_S1167Fs

c.3497_3500delinsAGAAAFs

1 paper

NM_001009944.3

p.P1168_V1169delFs

c.3504_3507del4

5 papers

NM_001009944.3

p.G1166S

c.3496G>A

1 paper

NM_001009944.3

p.G1166fs

c.3496_3497fs

1 paper

NM_001009944.3

p.D1165fs

c.3493_3494fs

7 papers

NM_001009944.3

p.D1165G

c.3494A>G

2 papers

NM_001009944.3

p.D1165delFs

c.3493delC

1 paper

NM_001009944.3

p.D1165Y

c.3493G>T

1 paper

NM_001009944.3

p.D1162_G1164delFs

c.3485_3492del8