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

5 papers

NM_004333.6

p.H585Y

c.1753C>T

Surrounding Variants

1 paper

NM_004333.6

p.H585N

c.1753C>A

6 papers

NM_004333.6

p.L584L

c.1752T>C

2 papers

NM_004333.6

p.H585R

c.1754A>G

3 papers

NM_004333.6

p.L584R

c.1751T>G

1 paper

NM_004333.6

p.H585Q

c.1755T>G

4 papers

NM_004333.6

p.L584P

c.1751T>C

1 paper

NM_004333.6

p.H585H

c.1755T>C

1 paper

NM_004333.6

p.H585Q

c.1755T>A

104 papers

NM_004333.6

p.E586K

c.1756G>A

46 papers

NM_004333.6

p.L584F

c.1750C>T

NM_001374258.1

p.L624F

c.1870C>T

1 paper

NM_001378473.1

p.L532V

c.1594C>G

7 papers

NM_004333.6

p.L584I

c.1750C>A