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.E71*

c.211G>T

Surrounding Variants

1 paper

NM_004333.6

p.E71K

c.211G>A

1 paper

NM_004333.6

p.E71fs

c.211_212fs

1 paper

NM_004333.6

p.G69del1

c.205_206delACC

2 papers

NM_004333.6

p.E71V

c.212A>T

1 paper

NM_004333.6

p.E71_H72insFs

c.213_214insT

3 papers

NM_004333.6

p.G70E

c.209G>A

3 papers

NM_004333.6

p.G70R

c.208G>C

2 papers

NM_004333.6

p.G70R

c.208G>A

1 paper

NM_004333.6

p.H72D

c.214C>G

1 paper

NM_004333.6

p.F68_E71del4

c.202_212del12

1 paper

NM_004333.6

p.G69delFs

c.205_206delCC

1 paper

NM_004333.6

p.H72Q

c.216T>G