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

1 paper

NM_153646.4

p.V519A

c.1556T>C

Surrounding Variants

1 paper

NM_153646.4

p.T522I

c.1565C>T

3 papers

NM_153646.4

p.G535D

c.1604G>A

3 papers

NM_153646.4

p.K552Q

c.1654A>C

1 paper

NM_153646.4

p.T572_V573Splc

c.1716+1G>A

1 paper

NM_153646.4

p.T572_V573Splc

c.1716+5G>A

1 paper

NM_153646.4

p.T572_V573Splc

c.1717-26C>G

1 paper

NM_153646.4

p.R582*

c.1744C>T

1 paper

NM_153646.4

p.D584N

c.1750G>A

1 paper

NM_153646.4

p.R585Q

c.1754G>A

1 paper

NM_153646.4

p.V613I

c.1837G>A

2 papers

NM_153646.4

p.E620K

c.1858G>A

1 paper

NM_153646.4

p.D622N

c.1864G>A