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

32 papers

NM_205850.3

p.P37P

c.111A>T

Surrounding Variants

3 papers

NM_205850.3

p.P37P

c.111A>G

1 paper

NM_205850.3

p.T40I

c.119C>T

1 paper

NM_205850.3

p.G41*

c.121G>T

1 paper

NM_205850.3

p.L32delFs

c.96delG

1 paper

NM_205850.3

p.S31F

c.92C>T

2 papers

NM_205850.3

p.L32_P33del2

c.94_98del6

1 paper

NM_205850.3

p.P26S

c.76C>T

1 paper

NM_205850.3

p.A23delFs

c.69delA

2 papers

NM_205850.3

p.W20_G29del10

c.58_86del30

1 paper

NM_205850.3

p.L19M

c.55C>A

1 paper

NM_205850.3

p.I18N

c.53T>A

1 paper

NM_205850.3

p.G17R

c.49G>C