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.L19Q

c.56T>A

Surrounding Variants

2 papers

NM_021097.5

p.H18L

c.53A>T

1 paper

NM_021097.5

p.S10L

c.29C>T

1 paper

NM_021097.5

p.H29Y

c.85C>T

1 paper

NM_021097.5

p.H29L

c.86A>T

1 paper

NM_021097.5

p.S8I

c.23G>T

1 paper

NM_021097.5

p.S8T

c.23G>C

1 paper

NM_021097.5

p.S8N

c.23G>A

1 paper

NM_021097.5

p.R6fs

c.16_17fs

2 papers

NM_021097.5

p.H32P

c.95A>C

1 paper

NM_021097.5

p.V33I

c.97G>A

1 paper

NM_021097.5

p.R5Q

c.14G>A

1 paper

NM_021097.5

p.R5W

c.13C>T