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.Q194R

c.581A>G

Surrounding Variants

1 paper

NM_153646.4

p.G193C

c.577G>T

1 paper

NM_153646.4

p.A177T

c.529G>A

1 paper

NM_153646.4

p.V170M

c.508G>A

1 paper

NM_153646.4

p.V168_G169insFs

c.504_505ins4

1 paper

NM_153646.4

p.H165H

c.495T>C

1 paper

NM_153648.4

p.R133S

c.397C>A

1 paper

NM_153646.4

p.R197C

c.589C>T

1 paper

NM_153646.4

p.R205*

c.613C>T

1 paper

NM_153646.4

p.I215M

c.645C>G

2 papers

NM_153646.4

p.V216M

c.646G>A

1 paper

NM_153646.4

p.V216A

c.647T>C

1 paper

NM_153646.4

p.A156T

c.466G>A