Varaico: Literature-Extracted Genetic Variants

SLC24A3

64 papers

RefSeq Summary

Plasma membrane sodium/calcium exchangers are an important component of intracellular calcium homeostasis and electrical conduction. Potassium-dependent sodium/calcium exchangers such as SLC24A3 are b...

Pfam Domains

Na_Ca_exaa 113–257UCSCSodium/calcium exchanger protein

Na_Ca_exaa 475–627UCSCSodium/calcium exchanger protein

Gene Aliases

HGNC Name

solute carrier family 24 member 3

HGNC Previous Name

solute carrier family 24 (sodium/potassium/calcium exchanger), member 3

Papers

RefSeq ID

Protein change

DNA change

1–12 of 60 variants

3 papers

NM_020689.4

p.R18del1

c.52_54delCGC

2 papers

NM_020689.4

p.V55I

c.163G>A

2 papers

NM_020689.4

p.V523M

c.1567G>A

1 paper

NM_020689.4

p.R2G

c.4C>G

1 paper

NM_020689.4

p.D8G

c.23A>G

1 paper

NM_020689.4

p.R20del1

c.58_59delAGG

1 paper

NM_020689.4

p.L49P

c.146T>C

1 paper

NM_020689.4

p.L54_G56del3

c.160_167del9

1 paper

NM_020689.4

p.G56E

c.167G>A

1 paper

NM_020689.4

p.L67P

c.200T>C

1 paper

NM_020689.4

p.V70A

c.209T>C

1 paper

NM_020689.4

p.N71N

c.213C>T