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.L495F

c.1485A>C

Surrounding Variants

2 papers

NM_004333.6

p.L495F

c.1485A>T

1 paper

NM_004333.6

p.P490_L495del0

c.1469_1483del15

2 papers

NM_004333.6

p.Q496*

c.1486C>T

1 paper

NM_004333.6

p.Q496E

c.1486C>G

1 paper

NM_004333.6

p.P490_Q494del0

c.1468_1482del15

1 paper

NM_004333.6

p.V487_L495delins

c.1460_1483delinsACC

1 paper

NM_004333.6

p.Q496R

c.1487A>G

1 paper

NM_004333.6

p.Q494H

c.1482G>T

1 paper

NM_004333.6

p.Q494H

c.1482G>C

1 paper

NM_004333.6

p.A489_Q494del0

c.1467_1481del15

1 paper

NM_004333.6

p.A497S

c.1489G>T

1 paper

NM_004333.6

p.A497P

c.1489G>C