Varaico: Literature-Extracted Genetic Variants

Gene:BRAF
Variant:p.L286L

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.L286L
c.858T>G
Surrounding Variants
2 papers
NM_004333.6
p.L286P
c.857T>C
1 paper
NM_004333.6
p.D287_L288ins5
c.859_863ins15
2 papers
NM_004333.6
p.D287H
c.859G>C
2 papers
NM_004333.6
p.L286F
c.856C>T
1 paper
NM_004333.6
p.L286V
c.856C>G
1 paper
NM_004333.6
p.Q285delFs
c.854delT
1 paper
NM_004333.6
p.Q285*
c.853C>T
1 paper
NM_004333.6
p.D284delFs
c.851_852delGT
1 paper
NM_004333.6
p.D284D
c.852C>T
1 paper
NM_004333.6
p.D284Y
c.850G>T
1 paper
NM_004333.6
p.Y283Y
c.849T>C
1 paper
NM_004333.6
p.Y283C
c.848A>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."