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

53 papers

NM_001161352.2

p.D434G

c.1301A>G

Surrounding Variants

1 paper

NM_001161352.2

p.D432A

c.1295A>C

1 paper

NM_001161352.2

p.L429fs

c.1285_1286fs

1 paper

NM_001161352.2

p.D427A

c.1280A>C

1 paper

NM_001161352.2

p.F424F

c.1272C>T

5 papers

NM_001161352.2

p.H444Q

c.1332C>G

5 papers

NM_001161352.2

p.H444Q

c.1332C>A

1 paper

NM_001161352.2

p.V421I

c.1261G>A

11 papers

NM_001161352.2

p.C413Y

c.1238G>A

1 paper

NM_001161352.2

p.V412I

c.1234G>A

1 paper

NM_001161352.2

p.N445Splc

c.1335-17C>T

1 paper

NM_001161352.2

p.N445Splc

c.1335-6G>A

1 paper

NM_001161352.2

p.S447S

c.1341C>T