Varaico: Literature-Extracted Genetic Variants

SCN7A

211 papers

RefSeq Summary

This gene encodes one of the many voltage-gated sodium channel proteins. For proper functioning of neurons and muscles during action potentials, voltage-gated sodium channels direct sodium ion diffusi...

Pfam Domains

Ion_transaa 117–405UCSCIon transport protein

Ion_transaa 504–738UCSCIon transport protein

Na_trans_assocaa 742–929UCSCSodium ion transport-associated

Ion_transaa 933–1203UCSCIon transport protein

Ion_transaa 1250–1507UCSCIon transport protein

Gene Aliases

HGNC Name

sodium voltage-gated channel alpha subunit 7

HGNC Previous Symbol

SCN6A

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002976.4

p.E277A

c.830A>C

Surrounding Variants

1 paper

NM_002976.4

p.E275*

c.823G>T

1 paper

NM_002976.4

p.R282K

c.845G>A

3 papers

NM_002976.4

p.R269*

c.805C>T

1 paper

NM_002976.4

p.I289M

c.867T>G

1 paper

NM_002976.4

p.E291Splc

c.871+1G>A

1 paper

NM_002976.4

p.M260K

c.779T>A

1 paper

NM_002976.4

p.F247V

c.739T>G

1 paper

NM_002976.4

p.L245V

c.733C>G

1 paper

NM_002976.4

p.Q236P

c.707A>C

1 paper

NM_002976.4

p.A304G

c.911C>G

1 paper

NM_002976.4

p.C307F

c.920G>T

1 paper

NM_002976.4

p.G319R

c.955G>C