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

4 papers

NM_002976.4

p.R1516K

c.4547G>A

Surrounding Variants

1 paper

NM_002976.4

p.D1513H

c.4537G>C

1 paper

NM_002976.4

p.V1521L

c.4561G>T

1 paper

NM_002976.4

p.V1521L

c.4561G>C

1 paper

NM_002976.4

p.K1505R

c.4514A>G

1 paper

NM_002976.4

p.D1528H

c.4582G>C

1 paper

NM_002976.4

p.E1497K

c.4489G>A

1 paper

NM_002976.4

p.S1536fs

c.4606_4607fs

1 paper

NM_002976.4

p.S1536delFs

c.4606_4607delCT

1 paper

NM_002976.4

p.V1495D

c.4484T>A

1 paper

NM_002976.4

p.I1492T

c.4475T>C

2 papers

NM_002976.4

p.A1552T

c.4654G>A

1 paper

NM_002976.4

p.K1556E

c.4666A>G