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.L4del1

c.10_11delCAG

Surrounding Variants

5 papers

NM_004333.6

p.S5C

c.13A>T

1 paper

NM_004333.6

p.S5I

c.14G>T

2 papers

NM_004333.6

p.L4insFs

c.11dupT

1 paper

NM_004333.6

p.S5insFs

c.13dupA

233 papers

NM_004333.6

p.L4L

c.12G>C

197 papers

NM_004333.6

p.L4L

c.12G>A

2 papers

NM_004333.6

p.L4delFs

c.11delA

1 paper

NM_004333.6

p.L4P

c.11T>C

3 papers

NM_004333.6

p.S5S

c.15C>T

3 papers

NM_004333.6

p.G6R

c.16G>C

3 papers

NM_004333.6

p.G6S

c.16G>A

1 paper

NM_004333.6

p.L4L

c.10C>T