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.S101S

c.303C>T

Surrounding Variants

1 paper

NM_021097.5

p.F99L

c.297C>G

1 paper

NM_021097.5

p.F99L

c.297C>A

1 paper

NM_021097.5

p.F99L

c.295T>C

1 paper

NM_021097.5

p.T107S

c.319A>T

1 paper

NM_021097.5

p.A96T

c.286G>A

2 papers

NM_021097.5

p.S108T

c.322T>A

1 paper

NM_021097.5

p.Q109E

c.325C>G

1 paper

NM_021097.5

p.S93C

c.278C>G

1 paper

NM_021097.5

p.V92D

c.275T>A

1 paper

NM_021097.5

p.K111*

c.331A>T

1 paper

NM_021097.5

p.V92I

c.274G>A

1 paper

NM_021097.5

p.L90P

c.269T>C