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

1 paper

NM_205850.3

p.I18N

c.53T>A

Surrounding Variants

1 paper

NM_205850.3

p.L19M

c.55C>A

2 papers

NM_205850.3

p.W20_G29del10

c.58_86del30

1 paper

NM_205850.3

p.G17R

c.49G>C

1 paper

NM_205850.3

p.L14_A21delFs

c.42_61del20

1 paper

NM_205850.3

p.A23delFs

c.69delA

1 paper

NM_205850.3

p.R11delFs

c.32delG

3 papers

NM_205850.3

p.R11fs

c.31_32fs

1 paper

NM_205850.3

p.P26S

c.76C>T

1 paper

NM_205850.3

p.A10V

c.29C>T

3 papers

NM_205850.3

p.R11delFs

c.32_33delGA

1 paper

NM_205850.3

p.A10P

c.28G>C

1 paper

NM_205850.3

p.T8T

c.24A>T