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

26 papers

NM_004333.6

p.F247L

c.741T>G

Surrounding Variants

25 papers

NM_004333.6

p.F247L

c.741T>A

4 papers

NM_004333.6

p.F247C

c.740T>G

3 papers

NM_004333.6

p.F247S

c.740T>C

1 paper

NM_004333.6

p.C248R

c.742T>C

1 paper

NM_004333.6

p.F247Y

c.740T>A

4 papers

NM_004333.6

p.F247V

c.739T>G

26 papers

NM_004333.6

p.F247L

c.739T>C

1 paper

NM_004333.6

p.F247I

c.739T>A

2 papers

NM_004333.6

p.C248F

c.743G>T

10 papers

NM_004333.6

p.C248Y

c.743G>A

1 paper

NM_004333.6

p.F247_C248delins

c.741_742delinsTT

1 paper

NM_004333.6

p.D249N

c.745G>A