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

36 papers

NM_004333.6

p.L485W

c.1454T>G

Surrounding Variants

26 papers

NM_004333.6

p.L485S

c.1454T>C

5 papers

NM_004333.6

p.L485*

c.1454T>A

1 paper

NM_004333.6

p.L485V

c.1453T>G

1 paper

NM_004333.6

p.L485M

c.1453T>A

76 papers

NM_004333.6

p.L485F

c.1455G>T

75 papers

NM_004333.6

p.L485F

c.1455G>C

1 paper

NM_004333.6

p.L485fs

c.1453_1454fs

1 paper

NM_004333.6

p.M484I

c.1452G>T

1 paper

NM_004333.6

p.M484fs

c.1450_1451fs

1 paper

NM_004333.6

p.L485delFs

c.1454_1455delCA

3 papers

NM_004333.6

p.L485del1

c.1453_1454delCAA

1 paper

NM_004333.6

p.M484delFs

c.1450delT