Varaico: Literature-Extracted Genetic Variants

BRAF

18,221 papers

RefSeq Summary

This gene encodes a protein belonging to the RAF family of serine/threonine protein kinases. This protein plays a role in regulating the MAP kinase/ERK signaling pathway, which affects cell division, ...

Pfam Domains

RBDaa 156–227UCSCRaf-like Ras-binding domain

C1_1aa 235–282UCSCPhorbol esters/diacylglycerol binding domain (C1 domain)

PK_Tyr_Ser-Thraa 497–754UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

B-Raf proto-oncogene, serine/threonine kinase

HGNC Alias Symbols

BRAF1; BRAF-1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004333.6

p.N486K

c.1458T>G

Surrounding Variants

1 paper

NM_004333.6

p.N486N

c.1458T>C

1 paper

NM_004333.6

p.N486K

c.1458T>A

1 paper

NM_004333.6

p.V487L

c.1459G>T

1 paper

NM_004333.6

p.V487L

c.1459G>C

1 paper

NM_004333.6

p.V487M

c.1459G>A

1 paper

NM_004333.6

p.V487fs

c.1459_1460fs

18 papers

NM_004333.6

p.V487G

c.1460T>G

1 paper

NM_004333.6

p.V487A

c.1460T>C

1 paper

NM_004333.6

p.V487E

c.1460T>A

1 paper

NM_004333.6

p.L485delFs

c.1454_1455delCA

3 papers

NM_004333.6

p.L485del1

c.1453_1454delCAA

76 papers

NM_004333.6

p.L485F

c.1455G>T