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.D940Y

c.2818G>T

Surrounding Variants

1 paper

NM_001031836.3

p.S953S

c.2859G>A

1 paper

NM_001031836.3

p.L955F

c.2865G>C

1 paper

NM_001031836.3

p.L955F

c.2865G>T

1 paper

NM_001031836.3

p.G957*

c.2869G>T

6 papers

NM_001031836.3

p.N916S

c.2747A>G

1 paper

NM_001031836.3

p.G964W

c.2890G>T

1 paper

NM_001031836.3

p.D975N

c.2923G>A

1 paper

NM_001031836.3

p.D975D

c.2925C>T

1 paper

NM_001031836.3

p.N977_P978Splc

c.2931+30T>C

1 paper

NM_001031836.3

p.N977_P978Splc

c.2932-99G>A

1 paper

NM_001031836.3

p.D991E

c.2973T>A

1 paper

NM_001031836.3

p.D991E

c.2973T>G