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.R432Splc

c.1295+3A>C

Surrounding Variants

1 paper

NM_001031836.3

p.I427T

c.1280T>C

1 paper

NM_001031836.3

p.I413F

c.1237A>T

1 paper

NM_001031836.3

p.E406K

c.1216G>A

1 paper

NM_001031836.3

p.V405fs

c.1213_1214fs

1 paper

NM_001031836.3

p.A404E

c.1211C>A

1 paper

NM_001031836.3

p.F389L

c.1167C>A

1 paper

NM_001031836.3

p.F389L

c.1167C>G

1 paper

NM_001031836.3

p.F389L

c.1165T>C

2 papers

NM_001031836.3

p.C382R

c.1144T>C

1 paper

NM_001031836.3

p.E375*

c.1123G>T

1 paper

NM_001031836.3

p.K437T

c.1310A>C

1 paper

NM_001031836.3

p.K437R

c.1310A>G