Varaico: Literature-Extracted Genetic Variants

KCNU1

115 papers

RefSeq Summary

This gene encodes a member of the potassium channel family of proteins. The encoded voltage-gated ion channel allows the outward flow of potassium ions during plasma membrane hyperpolarization in sper...

Pfam Domains

Ion_transaa 100–323UCSCIon transport protein

Slo-like_RCKaa 329–447UCSCCalcium-activated potassium channel slowpoke-like RCK domain

BK_channel_aaa 470–557UCSCCalcium-activated BK potassium channel alpha subunit

Slo-like_RCKaa 711–863UCSCCalcium-activated potassium channel slowpoke-like RCK domain

Slowpoke_Caa 919–1037UCSCCa2+-activated K+ channel Slowpoke, TrkA_C like domain

Gene Aliases

HGNC Name

potassium calcium-activated channel subfamily U member 1

HGNC Alias Symbols

KCa5.1; Slo3; KCNMC1; Kcnma3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001031836.3

p.R290Q

c.869G>A

Surrounding Variants

1 paper

NM_001031836.3

p.R290W

c.868C>T

1 paper

NM_001031836.3

p.G255S

c.763G>A

1 paper

NM_001031836.3

p.I302V

c.904A>G

1 paper

NM_001031836.3

p.F304Y

c.911T>A

1 paper

NM_001031836.3

p.T322S

c.964A>T

1 paper

NM_001031836.3

p.T322S

c.965C>G

1 paper

NM_001031836.3

p.C337*

c.1011T>A

1 paper

NM_001031836.3

p.G240V

c.719G>T

1 paper

NM_001031836.3

p.A239V

c.716C>T

1 paper

NM_001031836.3

p.L232L

c.696C>G

1 paper

NM_001031836.3

p.S225F

c.674C>T

1 paper

NM_001031836.3

p.S221*

c.662C>A