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.P44A

c.130C>G

Surrounding Variants

1 paper

NM_004333.6

p.P44S

c.130C>T

1 paper

NM_004333.6

p.P44L

c.131C>T

1 paper

NM_004333.6

p.E45*

c.133G>T

1 paper

NM_004333.6

p.E45K

c.133G>A

1 paper

NM_004333.6

p.I43F

c.127A>T

2 papers

NM_004333.6

p.I43V

c.127A>G

1 paper

NM_004333.6

p.A42delFs

c.125delG

1 paper

NM_004333.6

p.A42del1

c.124_126delGGC

3 papers

NM_004333.6

p.A42A

c.126C>T

1 paper

NM_004333.6

p.A42_I43insFs

c.126_127insT

1 paper

NM_004333.6

p.E45V

c.134A>T

2 papers

NM_004333.6

p.E45G

c.134A>G