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

55 papers

NM_004333.6

p.K601Q

c.1801A>C

Surrounding Variants

5 papers

NM_004333.6

p.K601*

c.1801A>T

952 papers

NM_004333.6

p.K601E

c.1801A>G

1 paper

NM_004333.6

p.V600ins0

c.1798_1800dupGTG

1 paper

NM_004333.6

p.V600_K601ins1

c.1800_1801insGTG

1 paper

NM_004333.6

p.V600_K601delins

c.1799_1801delinsAGG

3 papers

NM_004333.6

p.V600delFs

c.1799_1800delCA

2 papers

NM_004333.6

p.V600del1

c.1798_1799delCAC

4 papers

NM_004333.6

p.V600V

c.1800G>T

1 paper

NM_004333.6

p.V600Fs

c.1800delinsATFs

4 papers

NM_004333.6

p.V600fs

c.1798_1799fs

16 papers

NM_004333.6

p.V600V

c.1800G>A

2 papers

NM_004333.6

p.V600Fs

c.1800delinsAAFs