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.R683Q

c.2048G>A

Surrounding Variants

1 paper

NM_002976.4

p.W694*

c.2081G>A

1 paper

NM_002976.4

p.W669*

c.2007G>A

1 paper

NM_002976.4

p.W669*

c.2006G>A

1 paper

NM_002976.4

p.V699I

c.2095G>A

1 paper

NM_002976.4

p.P667S

c.1999C>T

1 paper

NM_002976.4

p.K662delFs

c.1984_1985delTT

1 paper

NM_002976.4

p.D661N

c.1981G>A

1 paper

NM_002976.4

p.V657A

c.1970T>C

1 paper

NM_002976.4

p.L719L

c.2157G>C

1 paper

NM_002976.4

p.L719_V720Splc

c.2157+4A>C

1 paper

NM_002976.4

p.V631F

c.1891G>T

1 paper

NM_002976.4

p.S623*

c.1868C>G