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.V4009G

c.12026T>G

Surrounding Variants

1 paper

NM_001009944.3

p.V4009E

c.12026T>A

3 papers

NM_001009944.3

p.R4010C

c.12028C>T

1 paper

NM_001009944.3

p.R4010fs

c.12028_12029fs

12 papers

NM_001009944.3

p.Q4011*

c.12031C>T

NM_000296.4

p.Q4010*

c.12028C>T

1 paper

NM_001009944.3

p.R4010delFs

c.12029_12030delGC

1 paper

NM_001009944.3

p.Q4011L

c.12032A>T

1 paper

NM_001009944.3

p.R4007C

c.12019C>T

7 papers

NM_001009944.3

p.W4012*

c.12035G>A

6 papers

NM_001009944.3

p.W4012*

c.12036G>A

1 paper

NM_001009944.3

p.S4013P

c.12037T>C

1 paper

NM_001009944.3

p.Q4005fs

c.12013_12014fs

1 paper

NM_001009944.3

p.Q4005R

c.12014A>G