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

13 papers

NM_004333.6

p.L514V

c.1540C>G

Surrounding Variants

2 papers

NM_004333.6

p.L514I

c.1540C>A

1 paper

NM_004333.6

p.L514P

c.1541T>C

1 paper

NM_004333.6

p.I513M

c.1539C>G

1 paper

NM_004333.6

p.I513T

c.1538T>C

1 paper

NM_004333.6

p.L515P

c.1544T>C

1 paper

NM_004333.6

p.N512delFs

c.1535delT

1 paper

NM_004333.6

p.N512T

c.1535A>C

3 papers

NM_004333.6

p.F516L

c.1546T>C

1 paper

NM_004333.6

p.N512fs

c.1534_1535fs

1 paper

NM_004333.6

p.F516S

c.1547T>C

1 paper

NM_004333.6

p.V511A

c.1532T>C

2 papers

NM_004333.6

p.F516L

c.1548C>G