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.I527I

c.1581T>A

Surrounding Variants

1 paper

NM_004333.6

p.I527delFs

c.1579delT

1 paper

NM_004333.6

p.V528F

c.1582G>T

1 paper

NM_004333.6

p.I527V

c.1579A>G

1 paper

NM_004333.6

p.A526V

c.1577C>T

2 papers

NM_004333.6

p.T529A

c.1585A>G

5 papers

NM_004333.6

p.T529I

c.1586C>T

12 papers

NM_004333.6

p.T529N

c.1586C>A

15 papers

NM_004333.6

p.L525R

c.1574T>G

18 papers

NM_004333.6

p.L525P

c.1574T>C

4 papers

NM_004333.6

p.L525Q

c.1574T>A

1 paper

NM_004333.6

p.Q530*

c.1588C>T

2 papers

NM_004333.6

p.Q530K

c.1588C>A