Varaico: Literature-Extracted Genetic Variants

SLC24A4

90 papers

RefSeq Summary

This gene encodes a sodium/potassium/calcium exchange protein. The encoded antiporter transports one calcium and one potassium ion in exchange for four sodium ions and has been implicated in amelogene...

Pfam Domains

Na_Ca_exaa 103–247UCSCSodium/calcium exchanger protein

Na_Ca_exaa 452–604UCSCSodium/calcium exchanger protein

Gene Aliases

HGNC Name

solute carrier family 24 member 4

HGNC Alias Symbol

NCKX4

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

8 papers

NM_153646.4

p.S499C

c.1495A>T

NM_153647.4

p.S480C

c.1438A>T

NM_153648.4

p.S435C

c.1303A>T

Surrounding Variants

1 paper

NM_153646.4

p.A495V

c.1484C>T

1 paper

NM_153646.4

p.I488L

c.1462A>C

1 paper

NM_153646.4

p.Y480_P485delFs

c.1439_1454del16

1 paper

NM_153646.4

p.G479E

c.1436G>A

1 paper

NM_153646.4

p.T476I

c.1427C>T

1 paper

NM_153646.4

p.V475E

c.1424T>A

1 paper

NM_153646.4

p.L474_V475Splc

c.1422+1061G>A

1 paper

NM_153646.4

p.W463*

c.1389G>A

1 paper

NM_153646.4

p.W463*

c.1388G>A

1 paper

NM_153646.4

p.W463R

c.1387T>A

1 paper

NM_153646.4

p.W463R

c.1387T>C

1 paper

NM_153648.4

p.L398L

c.1192C>T