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.W768*

c.2303G>A

Surrounding Variants

1 paper

NM_001031836.3

p.W768*

c.2304G>A

5 papers

NM_001031836.3

p.W768R

c.2302T>A

5 papers

NM_001031836.3

p.W768R

c.2302T>C

1 paper

NM_001031836.3

p.E747Q

c.2239G>C

2 papers

NM_001031836.3

p.Y743F

c.2228A>T

1 paper

NM_001031836.3

p.P737P

c.2211C>T

1 paper

NM_001031836.3

p.R732W

c.2194C>T

1 paper

NM_001031836.3

p.H715R

c.2144A>G

1 paper

NM_001031836.3

p.A788V

c.2363C>T

1 paper

NM_001031836.3

p.S801insFs

c.2402dupC

1 paper

NM_001031836.3

p.S801fs

c.2401_2402fs

1 paper

NM_001031836.3

p.P802S

c.2404C>T