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.S430L

c.1289C>T

Surrounding Variants

1 paper

NM_004333.6

p.S431A

c.1291T>G

1 paper

NM_004333.6

p.S428_S429del1

c.1284_1286delGAT

1 paper

NM_004333.6

p.S429F

c.1286C>T

2 papers

NM_004333.6

p.S429Y

c.1286C>A

1 paper

NM_004333.6

p.S429A

c.1285T>G

1 paper

NM_004333.6

p.S431fs

c.1291_1292fs

1 paper

NM_004333.6

p.S430_S431del1

c.1289_1291delATG

1 paper

NM_004333.6

p.S428_S429delins

c.1284_1285delinsCT

1 paper

NM_001374258.1

p.S468L

c.1403C>T

2 papers

NM_004333.6

p.S428*

c.1283C>G

1 paper

NM_004333.6

p.S432insFs

c.1294dupT

2 papers

NM_004333.6

p.S428*

c.1283C>A