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.I2808fs

c.8422_8423fs

Surrounding Variants

1 paper

NM_001009944.3

p.I2808T

c.8423T>C

2 papers

NM_001009944.3

p.P2809L

c.8426C>T

1 paper

NM_001009944.3

p.S2807_I2808insFs

c.8421_8422insC

8 papers

NM_001009944.3

p.E2810*

c.8428G>T

1 paper

NM_001009944.3

p.E2810K

c.8428G>A

2 papers

NM_001009944.3

p.P2809delFs

c.8427delG

1 paper

NM_001009944.3

p.E2810fs

c.8428_8429fs

1 paper

NM_001009944.3

p.P2809_E2810del1

c.8426_8428delCGG

1 paper

NM_001009944.3

p.F2806F

c.8418C>T

1 paper

NM_001009944.3

p.F2806S

c.8417T>C

1 paper

NM_001009944.3

p.P2809_E2810del2

c.8425_8429del6

1 paper

NM_001009944.3

p.F2806_S2807insTC

c.8416_8420ins6