Varaico: Literature-Extracted Genetic Variants

KCNMA1

469 papers

RefSeq Summary

This gene encodes the alpha subunit of calcium-activated BK channel. The encoded protein is involved in several physiological processes including smooth muscle contraction, neurotransmitter release an...

Pfam Domains

Ion_transaa 177–398UCSCIon transport protein

Slo-like_RCKaa 405–523UCSCCalcium-activated potassium channel slowpoke-like RCK domain

BK_channel_aaa 546–633UCSCCalcium-activated BK potassium channel alpha subunit

Slo-like_RCKaa 782–948UCSCCalcium-activated potassium channel slowpoke-like RCK domain

Slowpoke_Caa 998–1118UCSCCa2+-activated K+ channel Slowpoke, TrkA_C like domain

Gene Aliases

HGNC Name

potassium calcium-activated channel subfamily M alpha 1

HGNC Previous Symbol

SLO

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001161352.2

p.T352S

c.1055C>G

Surrounding Variants

2 papers

NM_001161352.2

p.T352I

c.1055C>T

2 papers

NM_001161352.2

p.T352S

c.1054A>T

1 paper

NM_001161352.2

p.T352A

c.1054A>G

1 paper

NM_001161352.2

p.S351F

c.1052C>T

10 papers

NM_001161352.2

p.S351Y

c.1052C>A

1 paper

NM_001161352.2

p.S351P

c.1051T>C

1 paper

NM_001161352.2

p.S351T

c.1051T>A

1 paper

NM_001161352.2

p.G354R

c.1060G>C

14 papers

NM_001161352.2

p.G354S

c.1060G>A

13 papers

NM_001161352.2

p.G356R

c.1066G>C

13 papers

NM_001161352.2

p.G356R

c.1066G>A

1 paper

NM_001161352.2

p.L345L

c.1033T>C