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.Q513K

c.1537C>A

Surrounding Variants

1 paper

NM_019841.7

p.F512L

c.1536C>G

1 paper

NM_019841.7

p.F512L

c.1536C>A

1 paper

NM_019841.7

p.F512L

c.1534T>C

1 paper

NM_019841.7

p.E515Q

c.1543G>C

1 paper

NM_019841.7

p.D516N

c.1546G>A

1 paper

NM_019841.7

p.F508del1

c.1522_1523delGAA

1 paper

NM_019841.7

p.P517T

c.1549C>A

1 paper

NM_019841.7

p.A507V

c.1520C>T

1 paper

NM_019841.7

p.F523C

c.1568T>G

1 paper

NM_019841.7

p.D525N

c.1573G>A

1 paper

NM_019841.7

p.Y526F

c.1577A>T

13 papers

NM_019841.7

p.L530R

c.1589T>G