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.T1212I

c.3635C>T

Surrounding Variants

6 papers

NM_002247.4

p.N1159S

c.3476A>G

NM_001014797.3

p.N1163S

c.3488A>G

NM_001161352.2

p.N1217S

c.3650A>G

1 paper

NM_001161352.2

p.S1203N

c.3608G>A

1 paper

NM_001322837.2

p.S1173G

c.3517A>G

1 paper

NM_001161352.2

p.R1225W

c.3673C>T

1 paper

NM_001161352.2

p.Q1197*

c.3589C>T

1 paper

NM_001161352.2

p.S1195L

c.3584C>T

1 paper

NM_001161352.2

p.H1194H

c.3582C>T

1 paper

NM_001161352.2

p.R1235Q

c.3704G>A

1 paper

NM_002247.4

p.R1128Q

c.3383G>A

2 papers

NM_002247.4

p.R1128W

c.3382C>T

1 paper

NM_001161352.2

p.M1176fs

c.3526_3527fs

1 paper

NM_001161352.2

p.M1176insFs

c.3526dupA