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

2 papers

NM_205850.3

p.Q244H

c.732A>T

Surrounding Variants

2 papers

NM_205850.3

p.Q244H

c.732A>C

1 paper

NM_205850.3

p.P246L

c.737C>T

1 paper

NM_205850.3

p.R241insFs

c.723dupA

1 paper

NM_205850.3

p.M248I

c.744G>A

1 paper

NM_205850.3

p.M248I

c.744G>C

1 paper

NM_205850.3

p.M248I

c.744G>T

1 paper

NM_205850.3

p.G249R

c.745G>C

1 paper

NM_205850.3

p.E253*

c.757G>T

1 paper

NM_205850.3

p.A236T

c.706G>A

1 paper

NM_205850.3

p.A236fs

c.706_707fs

1 paper

NM_205850.3

p.A236_M239delFs

c.707_717del11

1 paper

NM_205850.3

p.C234G

c.700T>G