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.Q706R

c.2117A>G

Surrounding Variants

1 paper

NM_019841.7

p.R705H

c.2114G>A

9 papers

NM_019841.7

p.L712F

c.2136G>T

9 papers

NM_019841.7

p.L712F

c.2136G>C

1 paper

NM_019841.7

p.E725*

c.2173G>T

1 paper

NM_019841.7

p.S673R

c.2019T>G

1 paper

NM_019841.7

p.S673R

c.2019T>A

1 paper

NM_019841.7

p.S673R

c.2017A>C

1 paper

NM_019841.7

p.D658N

c.1972G>A

1 paper

NM_019841.7

p.S654A

c.1960T>G

1 paper

NM_019841.7

p.E649*

c.1945G>T

1 paper

NM_019841.7

p.R646H

c.1937G>A

1 paper

NM_019841.7

p.N640S

c.1919A>G