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.M578T

c.1733T>C

Surrounding Variants

2 papers

NM_001161352.2

p.M578I

c.1734G>T

2 papers

NM_001161352.2

p.M578I

c.1734G>C

2 papers

NM_001161352.2

p.M578I

c.1734G>A

1 paper

NM_001161352.2

p.F576L

c.1728C>A

4 papers

NM_001161352.2

p.G567S

c.1699G>A

2 papers

NM_001322838.2

p.Q386H

c.1158A>T

NM_001161352.2

p.Q566H

c.1698A>T

1 paper

NM_001161352.2

p.Q566H

c.1698A>C

1 paper

NM_001161352.2

p.L564M

c.1690C>A

2 papers

NM_001161352.2

p.C563G

c.1687T>G

1 paper

NM_001161352.2

p.S562T

c.1685G>C

1 paper

NM_001161352.2

p.C550F

c.1649G>T

1 paper

NM_001161352.2

p.C550S

c.1649G>C