Varaico: Literature-Extracted Genetic Variants

SLC24A5

163 papers

RefSeq Summary

This gene is a member of the potassium-dependent sodium/calcium exchanger family and encodes an intracellular membrane protein with 2 large hydrophilic loops and 2 sets of multiple transmembrane-spann...

Pfam Domains

Na_Ca_exaa 72–216UCSCSodium/calcium exchanger protein

Na_Ca_exaa 333–484UCSCSodium/calcium exchanger protein

Gene Aliases

HGNC Name

solute carrier family 24 member 5

HGNC Alias Symbols

JSX; OCA6; NCKX5

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_205850.3

p.W197*

c.591G>A

Surrounding Variants

2 papers

NM_205850.3

p.W197*

c.590G>A

4 papers

NM_205850.3

p.W197Splc

c.590+4A>G

1 paper

NM_205850.3

p.Y191delFs

c.573delT

1 paper

NM_205850.3

p.Y191insFs

c.571_572ins4

1 paper

NM_205850.3

p.I190insFs

c.569_570ins4

1 paper

NM_205850.3

p.G188V

c.563G>T

2 papers

NM_205850.3

p.I190_Y191delFs

c.568_572del5

1 paper

NM_205850.3

p.L187_G188insFs

c.561_562ins25

1 paper

NM_205850.3

p.L187insFs

c.560_561ins25

1 paper

NM_205850.3

p.V186V

c.558T>C

1 paper

NM_205850.3

p.A184A

c.552A>C

7 papers

NM_205850.3

p.S182R

c.546T>A