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

1 paper

NM_001031836.3

p.I176N

c.527T>A

Surrounding Variants

1 paper

NM_001031836.3

p.D175N

c.523G>A

1 paper

NM_001031836.3

p.V174I

c.520G>A

1 paper

NM_001031836.3

p.P180Q

c.539C>A

1 paper

NM_001031836.3

p.A160G

c.479C>G

1 paper

NM_001031836.3

p.L193P

c.578T>C

1 paper

NM_001031836.3

p.G194Splc

c.581-59G>A

1 paper

NM_001031836.3

p.P140T

c.418C>A

1 paper

NM_001031836.3

p.R214*

c.640C>T

1 paper

NM_001031836.3

p.S219Splc

c.656+1G>A

1 paper

NM_001031836.3

p.D126Splc

c.377+111G>A

1 paper

NM_001031836.3

p.I114T

c.341T>C

1 paper

NM_001031836.3

p.V111A

c.332T>C