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

2 papers

NM_153646.4

p.E350G

c.1049A>G

Surrounding Variants

2 papers

NM_153646.4

p.I346N

c.1037T>A

1 paper

NM_153646.4

p.R345G

c.1033A>G

1 paper

NM_153646.4

p.A343D

c.1028C>A

1 paper

NM_153646.4

p.R341W

c.1021C>T

1 paper

NM_153646.4

p.L340P

c.1019T>C

8 papers

NM_153646.4

p.R339*

c.1015C>T

NM_153647.4

p.R320*

c.958C>T

NM_153648.4

p.R275*

c.823C>T

1 paper

NM_153646.4

p.P336P

c.1008C>T

1 paper

NM_153646.4

p.R327*

c.979C>T

1 paper

NM_153646.4

p.A324V

c.971C>T

1 paper

NM_153646.4

p.Q299insFs

c.896_897insT

1 paper

NM_153646.4

p.R351W

c.1051C>T

2 papers

NM_153646.4

p.S362N

c.1085G>A