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

21 papers

NM_001161352.2

p.G375R

c.1123G>A

Surrounding Variants

20 papers

NM_001161352.2

p.G375R

c.1123G>C

1 paper

NM_001161352.2

p.L374R

c.1121T>G

2 papers

NM_001161352.2

p.F372V

c.1114T>G

1 paper

NM_001161352.2

p.T362delFs

c.1086delG

1 paper

NM_001161352.2

p.K361N

c.1083A>T

1 paper

NM_001161352.2

p.K361N

c.1083A>C

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.G354R

c.1060G>C

14 papers

NM_001161352.2

p.G354S

c.1060G>A

2 papers

NM_001161352.2

p.T352I

c.1055C>T

2 papers

NM_001161352.2

p.T352S

c.1055C>G