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

2 papers

NM_019841.7

p.H154R

c.461A>G

Surrounding Variants

1 paper

NM_019841.7

p.R153C

c.457C>T

1 paper

NM_019841.7

p.A151A

c.453C>A

1 paper

NM_019841.7

p.L159I

c.475C>A

1 paper

NM_019841.7

p.A145P

c.433G>C

1 paper

NM_019841.7

p.A141S

c.421G>T

1 paper

NM_019841.7

p.Q128H

c.384G>T

1 paper

NM_019841.7

p.Q128H

c.384G>C

1 paper

NM_019841.7

p.A124T

c.370G>A

1 paper

NM_019841.7

p.G163Splc

c.488-92G>A

1 paper

NM_019841.7

p.I178T

c.533T>C

1 paper

NM_019841.7

p.V179L

c.535G>C

1 paper

NM_019841.7

p.L181L

c.543G>C