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.R458R

c.1372C>A

Surrounding Variants

9 papers

NM_001161352.2

p.R458*

c.1372C>T

1 paper

NM_001161352.2

p.R458P

c.1373G>C

6 papers

NM_001161352.2

p.K457E

c.1369A>G

1 paper

NM_001161352.2

p.Q462L

c.1385A>T

1 paper

NM_001161352.2

p.F465L

c.1393T>C

1 paper

NM_001161352.2

p.F465L

c.1395T>G

1 paper

NM_001161352.2

p.F465L

c.1395T>A

1 paper

NM_001161352.2

p.L450M

c.1348C>A

10 papers

NM_001161352.2

p.N449fs

c.1345_1346fs

2 papers

NM_001161352.2

p.P448S

c.1342C>T

1 paper

NM_001161352.2

p.S447S

c.1341C>T

1 paper

NM_001161352.2

p.N445Splc

c.1335-6G>A