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.V257V

c.771C>T

Surrounding Variants

2 papers

NM_153646.4

p.K258T

c.773A>C

1 paper

NM_153646.4

p.L272L

c.814C>T

1 paper

NM_153646.4

p.N276I

c.827A>T

1 paper

NM_153646.4

p.K246E

c.736A>G

1 paper

NM_153646.4

p.L232R

c.695T>G

1 paper

NM_153646.4

p.L232_Y241delFs

c.694_722del29

1 paper

NM_153646.4

p.W228R

c.682T>A

1 paper

NM_153646.4

p.Q225K

c.673C>A

2 papers

NM_153646.4

p.V219_F220Splc

c.658-2A>G

1 paper

NM_153646.4

p.Q299insFs

c.896_897insT

1 paper

NM_153646.4

p.A324V

c.971C>T

1 paper

NM_153646.4

p.R327*

c.979C>T