Varaico: Literature-Extracted Genetic Variants

TRPC5

122 papers

RefSeq Summary

This gene belongs to the transient receptor family. It encodes one of the seven mammalian TRPC (transient receptor potential channel) proteins. The encoded protein is a multi-pass membrane protein and...

Pfam Domains

Ank_2aa 36–127UCSCAnkyrin repeats (3 copies)

Ankaa 142–169UCSCAnkyrin repeat

TRP_2aa 176–238UCSCTransient receptor ion channel II

Ion_transaa 366–636UCSCIon transport protein

Gene Aliases

HGNC Name

transient receptor potential cation channel subfamily C member 5

HGNC Alias Symbol

PPP1R159

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_012471.3

p.Q507K

c.1519C>A

Surrounding Variants

1 paper

NM_012471.3

p.R512H

c.1535G>A

1 paper

NM_012471.3

p.D516H

c.1546G>C

1 paper

NM_012471.3

p.L496M

c.1486C>A

1 paper

NM_012471.3

p.S495Y

c.1484C>A

1 paper

NM_012471.3

p.S495A

c.1483T>G

1 paper

NM_012471.3

p.L521F

c.1561C>T

5 papers

NM_012471.3

p.S490L

c.1469C>T

1 paper

NM_012471.3

p.Y524F

c.1571A>T

2 papers

NM_012471.3

p.C525S

c.1573T>A

2 papers

NM_012471.3

p.C525S

c.1574G>C

1 paper

NM_012471.3

p.L529P

c.1586T>C

1 paper

NM_012471.3

p.E479K

c.1435G>A