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

20 papers

NM_004333.6

p.A598T

c.1792G>A

Surrounding Variants

2 papers

NM_004333.6

p.A598S

c.1792G>T

1 paper

NM_004333.6

p.A598_T599ins8

c.1792_1796ins24

1 paper

NM_004333.6

p.A598_T599ins14

c.1792_1796ins42

1 paper

NM_004333.6

p.A598P

c.1792G>C

1 paper

NM_004333.6

p.L597del1

c.1789_1790delTAG

61 papers

NM_004333.6

p.A598V

c.1793C>T

2 papers

NM_004333.6

p.A598G

c.1793C>G

2 papers

NM_004333.6

p.A598ins1

c.1793_1794insTGT

3 papers

NM_004333.6

p.A598D

c.1793C>A

1 paper

NM_004333.6

p.L597L

c.1791A>T

9 papers

NM_004333.6

p.L597L

c.1791A>G

1 paper

NM_004333.6

p.L597delFs

c.1789_1790delAG