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.P74R

c.221C>G

Surrounding Variants

1 paper

NM_004333.6

p.P74S

c.220C>T

2 papers

NM_004333.6

p.P74A

c.220C>G

1 paper

NM_004333.6

p.P74T

c.220C>A

1 paper

NM_004333.6

p.N73K

c.219T>G

1 paper

NM_004333.6

p.N73N

c.219T>C

4 papers

NM_004333.6

p.P75S

c.223C>T

3 papers

NM_004333.6

p.P75L

c.224C>T

1 paper

NM_004333.6

p.N73S

c.218A>G

2 papers

NM_004333.6

p.N73T

c.218A>C

1 paper

NM_004333.6

p.P75P

c.225A>T

1 paper

NM_004333.6

p.P75fs

c.223_224fs

1 paper

NM_004333.6

p.H72Q

c.216T>G