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

8 papers

NM_019841.7

p.D542A

c.1625A>C

Surrounding Variants

1 paper

NM_019841.7

p.D542E

c.1626T>G

1 paper

NM_019841.7

p.D542E

c.1626T>A

2 papers

NM_019841.7

p.D542N

c.1624G>A

2 papers

NM_019841.7

p.T539A

c.1615A>G

1 paper

NM_019841.7

p.F537C

c.1610T>G

1 paper

NM_019841.7

p.Y547F

c.1640A>T

1 paper

NM_019841.7

p.Y547C

c.1640A>G

1 paper

NM_019841.7

p.D548N

c.1642G>A

1 paper

NM_019841.7

p.V549M

c.1645G>A

1 paper

NM_019841.7

p.E535A

c.1604A>C

1 paper

NM_019841.7

p.E535Q

c.1603G>C

1 paper

NM_019841.7

p.D550N

c.1648G>A