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.Y359H

c.1075T>C

Surrounding Variants

1 paper

NM_002976.4

p.V357I

c.1069G>A

1 paper

NM_002976.4

p.Q361_I362Splc

c.1083+2T>C

1 paper

NM_002976.4

p.R348Q

c.1043G>A

1 paper

NM_002976.4

p.R348W

c.1042C>T

1 paper

NM_002976.4

p.L343*

c.1028T>G

1 paper

NM_002976.4

p.L343*

c.1028T>A

1 paper

NM_002976.4

p.D330Y

c.988G>T

1 paper

NM_002976.4

p.G319R

c.955G>C

1 paper

NM_002976.4

p.G319R

c.955G>A

1 paper

NM_002976.4

p.C307F

c.920G>T

1 paper

NM_002976.4

p.A304G

c.911C>G

1 paper

NM_002976.4

p.E291Splc

c.871+1G>A