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.R857Q

c.2570G>A

Surrounding Variants

1 paper

NM_001031836.3

p.N851D

c.2551A>G

1 paper

NM_001031836.3

p.E841Splc

c.2522-74T>G

2 papers

NM_001031836.3

p.A911T

c.2731G>A

1 paper

NM_001031836.3

p.T912M

c.2735C>T

1 paper

NM_001031836.3

p.T912_A913Splc

c.2736+62A>G

1 paper

NM_001031836.3

p.E841*

c.2521G>T

1 paper

NM_001031836.3

p.S838*

c.2513C>A

1 paper

NM_001031836.3

p.S838*

c.2513C>G

1 paper

NM_001031836.3

p.S838L

c.2513C>T

1 paper

NM_001031836.3

p.S832P

c.2494T>C

1 paper

NM_001031836.3

p.G825R

c.2473G>A

1 paper

NM_001031836.3

p.G825R

c.2473G>C