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

3 papers

NM_001009944.3

p.Q1174*

c.3520C>T

Surrounding Variants

1 paper

NM_001009944.3

p.Q1174K

c.3520C>A

1 paper

NM_001009944.3

p.Q1172_S1173delFs

c.3516_3519del4

1 paper

NM_001009944.3

p.S1173S

c.3519C>T

1 paper

NM_001009944.3

p.Q1174delFs

c.3521delT

1 paper

NM_001009944.3

p.Q1174delFs

c.3520_3521delTG

1 paper

NM_001009944.3

p.Q1172Q

c.3516G>A

1 paper

NM_001009944.3

p.Q1174del1

c.3520_3521delCTG

4 papers

NM_001009944.3

p.Q1172*

c.3514C>T

4 papers

NM_001009944.3

p.T1171T

c.3513C>G

1 paper

NM_001009944.3

p.P1175_A1176insFs

c.3524_3527dup4

2 papers

NM_001009944.3

p.Q1174_A1176delFs

c.3520_3527del8

1 paper

NM_001009944.3

p.A1177fs

c.3529_3530fs