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.G200R

c.598G>C

Surrounding Variants

1 paper

NM_205850.3

p.G200R

c.598G>A

1 paper

NM_205850.3

p.A201V

c.602C>T

1 paper

NM_205850.3

p.W197*

c.591G>A

1 paper

NM_205850.3

p.W197Splc

c.591-1G>A

2 papers

NM_205850.3

p.L214delFs

c.641delT

2 papers

NM_205850.3

p.C215delFs

c.644_645delGT

2 papers

NM_205850.3

p.L214fs

c.640_641fs

2 papers

NM_205850.3

p.C215fs

c.643_644fs

1 paper

NM_205850.3

p.F216L

c.646T>C

1 paper

NM_205850.3

p.D217delFs

c.649delG

1 paper

NM_205850.3

p.Y223H

c.667T>C

1 paper

NM_205850.3

p.I225T

c.674T>C