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.D265H

c.793G>C

Surrounding Variants

1 paper

NM_205850.3

p.T264I

c.791C>T

1 paper

NM_205850.3

p.Q261R

c.782A>G

1 paper

NM_205850.3

p.F269_Y270del1

c.806_808delTTT

1 paper

NM_205850.3

p.R260Q

c.779G>A

1 paper

NM_205850.3

p.I258S

c.773T>G

1 paper

NM_205850.3

p.D272N

c.814G>A

1 paper

NM_205850.3

p.F257L

c.771C>A

1 paper

NM_205850.3

p.F257L

c.771C>G

1 paper

NM_205850.3

p.F257L

c.769T>C

1 paper

NM_205850.3

p.S276F

c.827C>T

1 paper

NM_205850.3

p.Q277K

c.829C>A

1 paper

NM_205850.3

p.Q277E

c.829C>G