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.I181N

c.542T>A

Surrounding Variants

1 paper

NM_021097.5

p.N178S

c.533A>G

1 paper

NM_021097.5

p.N178D

c.532A>G

1 paper

NM_021097.5

p.L185fs

c.553_554fs

1 paper

NM_021097.5

p.A176V

c.527C>T

1 paper

NM_021097.5

p.V172M

c.514G>A

1 paper

NM_021097.5

p.G193R

c.577G>C

1 paper

NM_021097.5

p.G193R

c.577G>A

1 paper

NM_021097.5

p.S169G

c.505A>G

1 paper

NM_021097.5

p.D165V

c.494A>T

1 paper

NM_021097.5

p.K199N

c.597G>T

1 paper

NM_021097.5

p.K199N

c.597G>C

1 paper

NM_021097.5

p.R202L

c.605G>T