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.D1271D

c.3813C>T

Surrounding Variants

1 paper

NM_002976.4

p.M1269V

c.3805A>G

1 paper

NM_002976.4

p.Q1264R

c.3791A>G

1 paper

NM_002976.4

p.M1279I

c.3837G>T

1 paper

NM_002976.4

p.M1279I

c.3837G>C

1 paper

NM_002976.4

p.M1279I

c.3837G>A

1 paper

NM_002976.4

p.I1261T

c.3782T>C

2 papers

NM_002976.4

p.A1282V

c.3845C>T

1 paper

NM_002976.4

p.W1285C

c.3855G>T

1 paper

NM_002976.4

p.W1285C

c.3855G>C

1 paper

NM_002976.4

p.M1292V

c.3874A>G

1 paper

NM_002976.4

p.Y1294H

c.3880T>C

1 paper

NM_002976.4

p.V1248L

c.3742G>T