Varaico: Literature-Extracted Genetic Variants

SLC8A1

171 papers

RefSeq Summary

In cardiac myocytes, Ca(2+) concentrations alternate between high levels during contraction and low levels during relaxation. The increase in Ca(2+) concentration during contraction is primarily due t...

Pfam Domains

Na_Ca_exaa 80–251UCSCSodium/calcium exchanger protein

Na_Ca_ex_Caa 254–390UCSCC-terminal extension of sodium/calcium exchanger domain

Calx-betaaa 402–535UCSCCalx-beta domain

Calx-betaaa 533–651UCSCCalx-beta domain

Na_Ca_exaa 799–964UCSCSodium/calcium exchanger protein

Gene Aliases

HGNC Name

solute carrier family 8 member A1

HGNC Previous Symbol

NCX1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_021097.5

p.P118T

c.352C>A

Surrounding Variants

1 paper

NM_021097.5

p.P118L

c.353C>T

1 paper

NM_021097.5

p.E121Q

c.361G>C

1 paper

NM_021097.5

p.I115V

c.343A>G

1 paper

NM_021097.5

p.T114I

c.341C>T

1 paper

NM_021097.5

p.K111*

c.331A>T

1 paper

NM_021097.5

p.T125K

c.374C>A

1 paper

NM_021097.5

p.Q109E

c.325C>G

1 paper

NM_021097.5

p.V127V

c.381G>A

2 papers

NM_021097.5

p.S108T

c.322T>A

1 paper

NM_021097.5

p.T107S

c.319A>T

1 paper

NM_021097.5

p.I129V

c.385A>G

1 paper

NM_021097.5

p.N131Y

c.391A>T