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.S1680R

c.5040C>A

Surrounding Variants

1 paper

NM_002976.4

p.S1680R

c.5040C>G

1 paper

NM_002976.4

p.S1680R

c.5038A>C

1 paper

NM_002976.4

p.D1670E

c.5010C>G

1 paper

NM_002976.4

p.D1670E

c.5010C>A

5 papers

NM_002976.4

p.G1666S

c.4996G>A

1 paper

NM_002976.4

p.A1662T

c.4984G>A

2 papers

NM_002976.4

p.D1657G

c.4970A>G

1 paper

NM_002976.4

p.D1657A

c.4970A>C

1 paper

NM_002976.4

p.S1649*

c.4946C>G

1 paper

NM_002976.4

p.S1649*

c.4946C>A

1 paper

NM_002976.4

p.R1643*

c.4927C>T

1 paper

NM_002976.4

p.R1640H

c.4919G>A