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

8 papers

NM_004333.6

p.E501A

c.1502A>C

Surrounding Variants

13 papers

NM_004333.6

p.E501V

c.1502A>T

41 papers

NM_004333.6

p.E501G

c.1502A>G

1 paper

NM_004333.6

p.E501ins2

c.1502_1503ins6

3 papers

NM_004333.6

p.E501*

c.1501G>T

6 papers

NM_004333.6

p.E501Q

c.1501G>C

53 papers

NM_004333.6

p.E501K

c.1501G>A

2 papers

NM_004333.6

p.E501E

c.1503A>G

1 paper

NM_004333.6

p.N500delFs

c.1499delT

1 paper

NM_004333.6

p.V502_G503insYA

c.1504_1508ins6

1 paper

NM_004333.6

p.V502A

c.1505T>C

1 paper

NM_004333.6

p.V502E

c.1505T>A

1 paper

NM_004333.6

p.N500fs

c.1498_1499fs