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.P327S

c.979C>T

Surrounding Variants

1 paper

NM_001161352.2

p.D326A

c.977A>C

1 paper

NM_001161352.2

p.D326N

c.976G>A

1 paper

NM_001161352.2

p.E329Q

c.985G>C

1 paper

NM_001161352.2

p.E322Q

c.964G>C

2 papers

NM_001161352.2

p.N330_F331del0

c.988_993del6

1 paper

NM_001161352.2

p.V321M

c.961G>A

1 paper

NM_001161352.2

p.E341D

c.1023A>T

1 paper

NM_001161352.2

p.L345L

c.1033T>C

1 paper

NM_001161352.2

p.S351P

c.1051T>C

1 paper

NM_001161352.2

p.S351T

c.1051T>A

1 paper

NM_001161352.2

p.S351F

c.1052C>T

10 papers

NM_001161352.2

p.S351Y

c.1052C>A