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.T269M

c.806C>T

Surrounding Variants

2 papers

NM_019841.7

p.E288D

c.864G>T

2 papers

NM_019841.7

p.E288D

c.864G>C

1 paper

NM_019841.7

p.F292L

c.874T>C

1 paper

NM_019841.7

p.F292L

c.876C>G

1 paper

NM_019841.7

p.F292L

c.876C>A

1 paper

NM_019841.7

p.L295P

c.884T>C

1 paper

NM_019841.7

p.V297F

c.889G>T

1 paper

NM_019841.7

p.S298T

c.892T>A

1 paper

NM_019841.7

p.S299A

c.895T>G

3 papers

NM_019841.7

p.R302Q

c.905G>A

1 paper

NM_019841.7

p.G251S

c.751G>A

1 paper

NM_019841.7

p.G248E

c.743G>A