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.S362R

c.1086C>A

Surrounding Variants

2 papers

NM_153646.4

p.S362N

c.1085G>A

1 paper

NM_153646.4

p.R351W

c.1051C>T

1 paper

NM_153648.4

p.E318D

c.954A>T

1 paper

NM_153648.4

p.P320S

c.958C>T

1 paper

NM_153646.4

p.Q394H

c.1182G>C

1 paper

NM_153646.4

p.Q394H

c.1182G>T

2 papers

NM_153646.4

p.P397L

c.1190C>T

2 papers

NM_153646.4

p.Q398*

c.1192C>T

1 paper

NM_153646.4

p.P399S

c.1195C>T

1 paper

NM_153646.4

p.P400Q

c.1199C>A

1 paper

NM_153646.4

p.P401P

c.1203G>A

1 paper

NM_153646.4

p.A409V

c.1226C>T