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.V511A

c.1532T>C

Surrounding Variants

3 papers

NM_004333.6

p.V511L

c.1531G>T

1 paper

NM_004333.6

p.V511L

c.1531G>C

1 paper

NM_004333.6

p.H510delFs

c.1529_1530delAT

1 paper

NM_004333.6

p.H510Q

c.1530T>G

1 paper

NM_004333.6

p.H510Q

c.1530T>A

1 paper

NM_004333.6

p.N512fs

c.1534_1535fs

1 paper

NM_004333.6

p.N512T

c.1535A>C

1 paper

NM_004333.6

p.H510P

c.1529A>C

1 paper

NM_004333.6

p.N512delFs

c.1535delT

2 papers

NM_004333.6

p.H510D

c.1528C>G

1 paper

NM_004333.6

p.H510N

c.1528C>A

2 papers

NM_004333.6

p.R506_R509ins1

c.1518_1526dup9