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

1–12 of 512 variants

53 papers

NM_001161352.2

p.D434G

c.1301A>G

21 papers

NM_001161352.2

p.G375R

c.1123G>A

20 papers

NM_001161352.2

p.G375R

c.1123G>C

16 papers

NM_001161352.2

p.N1053S

c.3158A>G

14 papers

NM_001161352.2

p.G354S

c.1060G>A

14 papers

NM_001161352.2

p.N536H

c.1606A>C

13 papers

NM_001161352.2

p.G356R

c.1066G>C

13 papers

NM_001161352.2

p.G356R

c.1066G>A

11 papers

NM_001161352.2

p.C413Y

c.1238G>A

11 papers

NM_001161352.2

p.I663V

c.1987A>G

11 papers

NM_001161352.2

p.Y676fs

c.2026_2027fs

10 papers

NM_001161352.2

p.S351Y

c.1052C>A