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

1–12 of 260 variants

32 papers

NM_205850.3

p.P37P

c.111A>T

16 papers

NM_205850.3

p.T111A

c.331A>G

8 papers

NM_205850.3

p.Y72*

c.216T>G

8 papers

NM_205850.3

p.L278F

c.832C>T

7 papers

NM_205850.3

p.Y72*

c.216T>A

7 papers

NM_205850.3

p.S182R

c.544A>C

7 papers

NM_205850.3

p.S182R

c.546T>A

7 papers

NM_205850.3

p.S182R

c.546T>G

6 papers

NM_205850.3

p.L454insFs

c.1361dupT

5 papers

NM_205850.3

p.A115E

c.344C>A

5 papers

NM_205850.3

p.R174K

c.521G>A

5 papers

NM_205850.3

p.P299S

c.895C>T