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

3 papers

NM_002976.4

p.R1358H

c.4073G>A

Surrounding Variants

2 papers

NM_002976.4

p.R1358C

c.4072C>T

2 papers

NM_002976.4

p.R1352W

c.4054C>T

1 paper

NM_002976.4

p.H1367R

c.4100A>G

1 paper

NM_002976.4

p.L1369P

c.4106T>C

1 paper

NM_002976.4

p.A1379T

c.4135G>A

1 paper

NM_002976.4

p.P1332L

c.3995C>T

1 paper

NM_002976.4

p.L1385I

c.4153C>A

1 paper

NM_002976.4

p.Y1404C

c.4211A>G

1 paper

NM_002976.4

p.N1422K

c.4266C>G

1 paper

NM_002976.4

p.N1422K

c.4266C>A

1 paper

NM_002976.4

p.M1424I

c.4272G>T

1 paper

NM_002976.4

p.M1424I

c.4272G>C