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.C693delFs

c.2078delC

Surrounding Variants

1 paper

NM_001161352.2

p.K696_R697insFs

c.2088_2089insA

1 paper

NM_001161352.2

p.P698S

c.2092C>T

1 paper

NM_001161352.2

p.D686D

c.2058T>C

4 papers

NM_001161352.2

p.Y676fs

c.2026_2027fs

5 papers

NM_001161352.2

p.Y676insFs

c.2026dupT

11 papers

NM_001161352.2

p.Y676fs

c.2026_2027fs

1 paper

NM_001271519.2

p.F701Splc

c.2101+1G>A

1 paper

NM_001161352.2

p.S665G

c.1993A>G

11 papers

NM_001161352.2

p.I663V

c.1987A>G

1 paper

NM_001161352.2

p.T658I

c.1973C>T

6 papers

NM_001161352.2

p.E656A

c.1967A>C