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.W143*

c.429G>A

Surrounding Variants

1 paper

NM_002976.4

p.W143*

c.428G>A

1 paper

NM_002976.4

p.P145L

c.434C>T

3 papers

NM_002976.4

p.V133I

c.397G>A

1 paper

NM_002976.4

p.I107T

c.320T>C

1 paper

NM_002976.4

p.I107L

c.319A>C

1 paper

NM_002976.4

p.C106Y

c.317G>A

1 paper

NM_002976.4

p.S102Y

c.305C>A

1 paper

NM_002976.4

p.T100A

c.298A>G

1 paper

NM_002976.4

p.A94V

c.281C>T

1 paper

NM_002976.4

p.A94E

c.281C>A

1 paper

NM_002976.4

p.N93D

c.277A>G

1 paper

NM_002976.4

p.L83*

c.248T>G