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.T529I

c.1586C>T

Surrounding Variants

12 papers

NM_004333.6

p.T529N

c.1586C>A

2 papers

NM_004333.6

p.T529A

c.1585A>G

1 paper

NM_004333.6

p.Q530*

c.1588C>T

2 papers

NM_004333.6

p.Q530K

c.1588C>A

1 paper

NM_004333.6

p.Q530L

c.1589A>T

1 paper

NM_004333.6

p.Q530delFs

c.1588delG

1 paper

NM_004333.6

p.V528F

c.1582G>T

7 papers

NM_004333.6

p.W531R

c.1591T>C

7 papers

NM_004333.6

p.W531R

c.1591T>A

1 paper

NM_004333.6

p.I527I

c.1581T>A

1 paper

NM_004333.6

p.I527delFs

c.1579delT

10 papers

NM_004333.6

p.W531L

c.1592G>T