Varaico: Literature-Extracted Genetic Variants

Gene:KCNA4
Variant:p.D337Y

KCNA4

175 papers

RefSeq Summary

Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, ...

Pfam Domains

K_channel_TIDaa 1–74UCSCPotassium channel Kv1.4 tandem inactivation domain
BTB_2aa 178–269UCSCBTB/POZ domain
Ion_transaa 306–571UCSCIon transport protein

Gene Aliases

HGNC Name

potassium voltage-gated channel subfamily A member 4

HGNC Previous Symbol

KCNA4L

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002233.4
p.D337Y
c.1009G>T
Surrounding Variants
1 paper
NM_002233.4
p.R336S
c.1008G>T
1 paper
NM_002233.4
p.R336S
c.1008G>C
1 paper
NM_002233.4
p.V339I
c.1015G>A
1 paper
NM_002233.4
p.A341V
c.1022C>T
1 paper
NM_002233.4
p.A341E
c.1022C>A
1 paper
NM_002233.4
p.G345G
c.1035C>T
1 paper
NM_002233.4
p.G348R
c.1042G>C
1 paper
NM_002233.4
p.L350M
c.1048T>A
1 paper
NM_002233.4
p.V322L
c.964G>C
1 paper
NM_002233.4
p.L318*
c.953T>G
1 paper
NM_002233.4
p.L318*
c.953T>A
1 paper
NM_002233.4
p.P357T
c.1069C>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."