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.F534C

c.1601T>G

Surrounding Variants

1 paper

NM_019841.7

p.E535Q

c.1603G>C

1 paper

NM_019841.7

p.E535A

c.1604A>C

2 papers

NM_019841.7

p.F531C

c.1592T>G

1 paper

NM_019841.7

p.F537C

c.1610T>G

13 papers

NM_019841.7

p.L530R

c.1589T>G

2 papers

NM_019841.7

p.T539A

c.1615A>G

2 papers

NM_019841.7

p.D542N

c.1624G>A

1 paper

NM_019841.7

p.Y526F

c.1577A>T

8 papers

NM_019841.7

p.D542A

c.1625A>C

1 paper

NM_019841.7

p.D542E

c.1626T>G

1 paper

NM_019841.7

p.D542E

c.1626T>A

1 paper

NM_019841.7

p.D525N

c.1573G>A