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.H1347D

c.4039C>G

Surrounding Variants

2 papers

NM_001009944.3

p.H1347fs

c.4039_4040fs

1 paper

NM_001009944.3

p.H1347fs

c.4039_4040fs

4 papers

NM_001009944.3

p.H1347_N1348delFs

c.4041_4042delTG

1 paper

NM_001009944.3

p.N1348_F1349insFs

c.4042_4045dup4

1 paper

NM_001009944.3

p.F1349S

c.4046T>C

2 papers

NM_001009944.3

p.T1344M

c.4031C>T

5 papers

NM_001009944.3

p.R1351W

c.4051C>T

2 papers

NM_001009944.3

p.R1351Q

c.4052G>A

1 paper

NM_001009944.3

p.R1351R

c.4053G>T

3 papers

NM_001009944.3

p.R1351fs

c.4051_4052fs

1 paper

NM_001009944.3

p.R1351delFs

c.4051_4052delCG

4 papers

NM_001009944.3

p.S1352N

c.4055G>A