Varaico: Literature-Extracted Genetic Variants

SCN9A

740 papers

RefSeq Summary

This gene encodes a voltage-gated sodium channel which plays a significant role in nociception signaling. Mutations in this gene have been associated with primary erythermalgia, channelopathy-associat...

Pfam Domains

Ion_transaa 125–412UCSCIon transport protein

Na_trans_cytoplaa 535–694UCSCCytoplasmic domain of voltage-gated Na+ ion channel

Ion_transaa 743–978UCSCIon transport protein

Na_trans_assocaa 982–1187UCSCSodium ion transport-associated

Ion_transaa 1191–1468UCSCIon transport protein

Ion_transaa 1514–1771UCSCIon transport protein

Gene Aliases

HGNC Name

sodium voltage-gated channel alpha subunit 9

HGNC Alias Symbols

Nav1.7; PN1; NE-NA; NENA; ETHA

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001365536.1

p.S862_V863del2

c.2584_2588del6

Surrounding Variants

1 paper

NM_001365536.1

p.L866_G867insFs

c.2598_2599insT

1 paper

NM_002977.4

p.G856R

c.2566G>C

1 paper

NM_002977.4

p.G856A

c.2567G>C

7 papers

NM_002977.4

p.G856D

c.2567G>A

1 paper

NM_002977.4

p.I848I

c.2544T>C

16 papers

NM_002977.4

p.I848T

c.2543T>C

NM_001365536.1

p.I859T

c.2576T>C

12 papers

NM_001365536.1

p.L869F

c.2605C>T

NM_002977.4

p.L858F

c.2572C>T

13 papers

NM_002977.4

p.L858H

c.2573T>A

NM_001365536.1

p.L869H

c.2606T>A

7 papers

NM_001365536.1

p.I858N

c.2573T>A

15 papers

NM_001365536.1

p.V872G

c.2615T>G

1 paper

NM_001365536.1

p.M854I

c.2562G>T

1 paper

NM_001365536.1

p.M854I

c.2562G>C