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.Y1086_S1087insFs

c.3258_3259ins4

Surrounding Variants

1 paper

NM_001161352.2

p.P1089Q

c.3266C>A

5 papers

NM_001161352.2

p.R1083K

c.3248G>A

1 paper

NM_001322835.2

p.N1053S

c.3158A>G

1 paper

NM_002247.4

p.N1036S

c.3107A>G

1 paper

NM_001161352.2

p.D1096N

c.3286G>A

2 papers

NM_001161352.2

p.R1097H

c.3290G>A

1 paper

NM_001161352.2

p.L1063_T1065del3

c.3187_3194del9

25 papers

NM_001161352.2

p.N1053S

c.3158A>G

NM_001322832.2

p.N995S

c.2984A>G

1 paper

NM_001161352.2

p.T1050M

c.3149C>T

1 paper

NM_001161352.2

p.L1133V

c.3397C>G

1 paper

NM_001161352.2

p.S1146G

c.3436A>G

1 paper

NM_001161352.2

p.K1153Q

c.3457A>C