Varaico: Literature-Extracted Genetic Variants

PKD1L1

216 papers

RefSeq Summary

This gene encodes a member of the polycystin protein family containing 11 transmembrane domains, a receptor for egg jelly (REJ) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. The...

Pfam Domains

PKDaa 594–667UCSCPKD domain

REJaa 705–948UCSCREJ domain

REJaa 1118–1325UCSCREJ domain

PLATaa 1798–1913UCSCPLAT/LH2 domain

Polycystin_domaa 2441–2513UCSCPolycystin domain

PKD_channelaa 2514–2672UCSCPolycystin cation channel

Gene Aliases

HGNC Name

polycystin 1 like 1, transient receptor potential channel interacting

HGNC Alias Symbol

PRO19563

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_138295.5

p.F988L

c.2962T>C

Surrounding Variants

3 papers

NM_138295.5

p.F988L

c.2964C>G

3 papers

NM_138295.5

p.F988L

c.2964C>A

1 paper

NM_138295.5

p.R990P

c.2969G>C

1 paper

NM_138295.5

p.T985I

c.2954C>T

1 paper

NM_138295.5

p.P994L

c.2981C>T

1 paper

NM_138295.5

p.P994P

c.2982C>T

1 paper

NM_138295.5

p.V995M

c.2983G>A

1 paper

NM_138295.5

p.R1006_G1007insTA

c.3016_3020ins6

1 paper

NM_138295.5

p.L960L

c.2880C>T

1 paper

NM_138295.5

p.M1013_G1015del3

c.3037_3044del9

1 paper

NM_138295.5

p.G959G

c.2877A>G

1 paper

NM_138295.5

p.W1018*

c.3053G>A