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

2 papers

NM_004333.6

p.V600_K601delFs

c.1798_1801del4

Surrounding Variants

30 papers

NM_004333.6

p.K601I

c.1802A>T

22 papers

NM_004333.6

p.K601R

c.1802A>G

33 papers

NM_004333.6

p.K601T

c.1802A>C

1 paper

NM_004333.6

p.V600_K601delins

c.1799_1802delinsAAAT

49 papers

NM_004333.6

p.V600_K601del1

c.1799_1801delTCA

205 papers

NM_004333.6

p.K601N

c.1803A>T

5 papers

NM_004333.6

p.K601*

c.1801A>T

952 papers

NM_004333.6

p.K601E

c.1801A>G

3 papers

NM_004333.6

p.K601K

c.1803A>G

205 papers

NM_004333.6

p.K601N

c.1803A>C

55 papers

NM_004333.6

p.K601Q

c.1801A>C

1 paper

NM_004333.6

p.K601delins

c.1802delinsAGAT