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

1–12 of 124 variants

6 papers

NM_001031836.3

p.N916S

c.2747A>G

5 papers

NM_001031836.3

p.W768R

c.2302T>A

5 papers

NM_001031836.3

p.W768R

c.2302T>C

3 papers

NM_001031836.3

p.E558K

c.1672G>A

2 papers

NM_001031836.3

p.R290Q

c.869G>A

2 papers

NM_001031836.3

p.C382R

c.1144T>C

2 papers

NM_001031836.3

p.R432Splc

c.1295+3A>C

2 papers

NM_001031836.3

p.P576T

c.1726C>A

2 papers

NM_001031836.3

p.Y743F

c.2228A>T

2 papers

NM_001031836.3

p.W768*

c.2303G>A

2 papers

NM_001031836.3

p.A911T

c.2731G>A

2 papers

NM_001031836.3

p.D940Y

c.2818G>T