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.L2417L

c.7249C>T

Surrounding Variants

1 paper

NM_001009944.3

p.L2415P

c.7244T>C

3 papers

NM_001009944.3

p.T2414M

c.7241C>T

1 paper

NM_001009944.3

p.K2413delFs

c.7237_7238delTT

1 paper

NM_001009944.3

p.N2412del1

c.7234_7235delGTT

1 paper

NM_001009944.3

p.T2420I

c.7259C>T

3 papers

NM_001009944.3

p.T2421P

c.7261A>C

1 paper

NM_001009944.3

p.T2422fs

c.7264_7265fs

1 paper

NM_001009944.3

p.S2411R

c.7233C>G

1 paper

NM_001009944.3

p.T2422K

c.7265C>A

1 paper

NM_001009944.3

p.S2411R

c.7233C>A

1 paper

NM_001009944.3

p.S2411G

c.7231A>G

1 paper

NM_001009944.3

p.S2411R

c.7231A>C