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.R596*

c.1786C>T

Surrounding Variants

1 paper

NM_002976.4

p.M600L

c.1798A>T

1 paper

NM_002976.4

p.M600L

c.1798A>C

1 paper

NM_002976.4

p.M600I

c.1800G>T

1 paper

NM_002976.4

p.M600I

c.1800G>C

1 paper

NM_002976.4

p.M600I

c.1800G>A

1 paper

NM_002976.4

p.D573Y

c.1717G>T

1 paper

NM_002976.4

p.N570T

c.1709A>C

1 paper

NM_002976.4

p.G563W

c.1687G>T

4 papers

NM_002976.4

p.Y562C

c.1685A>G

1 paper

NM_002976.4

p.P561L

c.1682C>T

1 paper

NM_002976.4

p.M559I

c.1677G>T

1 paper

NM_002976.4

p.M559I

c.1677G>C