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

1–12 of 131 variants

9 papers

NM_153646.4

p.A146V

c.437C>T

8 papers

NM_153646.4

p.R339*

c.1015C>T

8 papers

NM_153646.4

p.S499C

c.1495A>T

5 papers

NM_153646.4

p.L436R

c.1307T>G

3 papers

NM_153646.4

p.G535D

c.1604G>A

3 papers

NM_153646.4

p.K552Q

c.1654A>C

2 papers

NM_153646.4

p.A142T

c.424G>A

2 papers

NM_153646.4

p.V216M

c.646G>A

2 papers

NM_153646.4

p.V219_F220Splc

c.658-2A>G

2 papers

NM_153646.4

p.K258T

c.773A>C

2 papers

NM_153646.4

p.I346N

c.1037T>A

2 papers

NM_153646.4

p.E350G

c.1049A>G