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.K48R

c.143A>G

Surrounding Variants

2 papers

NM_001365536.1

p.D43_P47delFs

c.129_141del13

1 paper

NM_001365536.1

p.P47R

c.140C>G

1 paper

NM_001365536.1

p.S51G

c.151A>G

1 paper

NM_001365536.1

p.E45_A46insFs

c.135_136insC

1 paper

NM_001365536.1

p.D52N

c.154G>A

1 paper

NM_001365536.1

p.E44*

c.130G>T

5 papers

NM_001365536.1

p.E44Q

c.130G>C

1 paper

NM_001365536.1

p.D43D

c.129T>C

2 papers

NM_001365536.1

p.D43fs

c.127_128fs

1 paper

NM_001365536.1

p.S51_E54del0

c.151_162del12

1 paper

NM_001365536.1

p.D41H

c.121G>C

1 paper

NM_001365536.1

p.G56A

c.167G>C