Varaico: Literature-Extracted Genetic Variants

TRPV5

176 papers

RefSeq Summary

This gene is a member of the transient receptor family and the TrpV subfamily. The calcium-selective channel encoded by this gene has 6 transmembrane-spanning domains, multiple potential phosphorylati...

Pfam Domains

Ank_2aa 49–147UCSCAnkyrin repeats (3 copies)

Ankaa 162–194UCSCAnkyrin repeat

Ion_transaa 327–590UCSCIon transport protein

Gene Aliases

HGNC Name

transient receptor potential cation channel subfamily V member 5

HGNC Previous Symbol

ECAC1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_019841.7

p.L23P

c.68T>C

Surrounding Variants

1 paper

NM_019841.7

p.P20S

c.58C>T

1 paper

NM_019841.7

p.L19L

c.57G>A

1 paper

NM_019841.7

p.D34A

c.101A>C

1 paper

NM_019841.7

p.K35R

c.104A>G

1 paper

NM_019841.7

p.H37Q

c.111T>A

9 papers

NM_019841.7

p.A8V

c.23C>T

1 paper

NM_019841.7

p.K42*

c.124A>T

1 paper

NM_019841.7

p.M1T

c.2T>C

1 paper

NM_019841.7

p.R73G

c.217C>G

1 paper

NM_019841.7

p.Q74K

c.220C>A

1 paper

NM_019841.7

p.R75K

c.224G>A

1 paper

NM_019841.7

p.A86P

c.256G>C