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.V130M

c.388G>A

Surrounding Variants

1 paper

NM_004333.6

p.V130L

c.388G>T

1 paper

NM_004333.6

p.V130L

c.388G>C

1 paper

NM_004333.6

p.S129_V130insFs

c.387_388insC

7 papers

NM_004333.6

p.S129L

c.386C>T

1 paper

NM_004333.6

p.S129A

c.385T>G

1 paper

NM_004333.6

p.S129P

c.385T>C

1 paper

NM_004333.6

p.L131L

c.391C>T

1 paper

NM_004333.6

p.V130_L131insFs

c.390_391ins4

1 paper

NM_004333.6

p.S127_V130del0

c.379_390del12

1 paper

NM_004333.6

p.L131fs

c.391_392fs

1 paper

NM_004333.6

p.L131R

c.392T>G

1 paper

NM_004333.6

p.L128R

c.383T>G