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

8 papers

NM_205850.3

p.L278F

c.832C>T

Surrounding Variants

1 paper

NM_205850.3

p.L278I

c.832C>A

1 paper

NM_205850.3

p.Q277H

c.831G>C

1 paper

NM_205850.3

p.Q277H

c.831G>T

2 papers

NM_205850.3

p.L278R

c.833T>G

1 paper

NM_205850.3

p.Q277K

c.829C>A

1 paper

NM_205850.3

p.Q277E

c.829C>G

1 paper

NM_205850.3

p.S276F

c.827C>T

1 paper

NM_205850.3

p.I280fs

c.838_839fs

1 paper

NM_205850.3

p.I280_S281delFs

c.840_841delAA

1 paper

NM_205850.3

p.D272N

c.814G>A

1 paper

NM_205850.3

p.S286delFs

c.856delA

1 paper

NM_205850.3

p.S286fs

c.856_857fs