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

1 paper

NM_001161352.2

p.V728L

c.2182G>T

Surrounding Variants

1 paper

NM_001161352.2

p.V728L

c.2182G>C

2 papers

NM_001161352.2

p.G730A

c.2189G>C

1 paper

NM_001161352.2

p.D733insFs

c.2197_2198ins16

1 paper

NM_001161352.2

p.E736K

c.2206G>A

1 paper

NM_001161352.2

p.R737ins1

c.2209_2210insCCT

1 paper

NM_001161352.2

p.S717F

c.2150C>T

1 paper

NM_001161352.2

p.S742S

c.2226T>A

1 paper

NM_001161352.2

p.S743F

c.2228C>T

1 paper

NM_001161352.2

p.S743S

c.2229T>A

1 paper

NM_001161352.2

p.C711delFs

c.2132delC

1 paper

NM_001161352.2

p.C711insFs

c.2132_2133insA

1 paper

NM_001161352.2

p.R707G

c.2119A>G