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

2 papers

NM_004333.6

p.L65F

c.195G>T

Surrounding Variants

1 paper

NM_004333.6

p.L65F

c.195G>C

1 paper

NM_004333.6

p.D66H

c.196G>C

1 paper

NM_004333.6

p.D66N

c.196G>A

2 papers

NM_004333.6

p.D66A

c.197A>C

3 papers

NM_004333.6

p.D66E

c.198C>G

1 paper

NM_004333.6

p.D66_K67ins5

c.198_199ins15

2 papers

NM_004333.6

p.D66E

c.198C>A

2 papers

NM_004333.6

p.L64L

c.192A>T

1 paper

NM_004333.6

p.K67E

c.199A>G

1 paper

NM_004333.6

p.L64L

c.190C>T

5 papers

NM_004333.6

p.L64I

c.190C>A

1 paper

NM_004333.6

p.K67I

c.200A>T