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

5 papers

NM_002976.4

p.T41N

c.122C>A

Surrounding Variants

1 paper

NM_002976.4

p.E45K

c.133G>A

1 paper

NM_002976.4

p.E36K

c.106G>A

1 paper

NM_002976.4

p.H33N

c.97C>A

1 paper

NM_002976.4

p.L50P

c.149T>C

1 paper

NM_002976.4

p.L57F

c.169C>T

1 paper

NM_002976.4

p.G60G

c.180A>T

1 paper

NM_002976.4

p.V62A

c.185T>C

1 paper

NM_002976.4

p.L10P

c.29T>C

1 paper

NM_002976.4

p.K77E

c.229A>G

1 paper

NM_002976.4

p.L83*

c.248T>G

1 paper

NM_002976.4

p.L83*

c.248T>A

1 paper

NM_002976.4

p.N93D

c.277A>G