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

2 papers

NM_001009944.3

p.P1484delFs

c.4452delC

Surrounding Variants

2 papers

NM_001009944.3

p.Y1485fs

c.4453_4454fs

2 papers

NM_001009944.3

p.P1484fs

c.4450_4451fs

4 papers

NM_001009944.3

p.P1484P

c.4452G>A

1 paper

NM_001009944.3

p.Y1485*

c.4455C>G

1 paper

NM_001009944.3

p.Y1485*

c.4455C>A

7 papers

NM_001009944.3

p.Q1483*

c.4447C>T

1 paper

NM_001009944.3

p.F1487delFs

c.4461delG

2 papers

NM_001009944.3

p.Q1482*

c.4444C>T

1 paper

NM_001009944.3

p.Q1482K

c.4444C>A

1 paper

NM_001009944.3

p.L1481L

c.4443G>T

1 paper

NM_001009944.3

p.S1488fs

c.4462_4463fs

1 paper

NM_001009944.3

p.L1479_E1480delFs

c.4437_4440del4