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.R643Splc

c.1928+1G>A

Surrounding Variants

1 paper

NM_001161352.2

p.R643insFs

c.1927_1928insC

1 paper

NM_001161352.2

p.S642N

c.1925G>A

1 paper

NM_001161352.2

p.E641*

c.1921G>T

1 paper

NM_001161352.2

p.R640Q

c.1919G>A

1 paper

NM_001161352.2

p.R640*

c.1918C>T

1 paper

NM_001161352.2

p.E634A

c.1901A>C

1 paper

NM_001161352.2

p.E634K

c.1900G>A

1 paper

NM_001161352.2

p.L628L

c.1884C>T

1 paper

NM_001161352.2

p.K627E

c.1879A>G

1 paper

NM_001161352.2

p.E620Splc

c.1860-30T>C

1 paper

NM_001161352.2

p.R643Splc

c.1928+2371G>A

6 papers

NM_001161352.2

p.E656A

c.1967A>C