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

4 papers

NM_004333.6

p.R603L

c.1808G>T

Surrounding Variants

2 papers

NM_004333.6

p.R603P

c.1808G>C

18 papers

NM_004333.6

p.R603Q

c.1808G>A

1 paper

NM_004333.6

p.V600_R603delins

c.1799_1808delinsAGAAATCTCA

21 papers

NM_004333.6

p.R603*

c.1807C>T

2 papers

NM_004333.6

p.R603G

c.1807C>G

1 paper

NM_004333.6

p.V600_S602delFs

c.1799_1806del8

1 paper

NM_004333.6

p.R603R

c.1809A>T

1 paper

NM_001374258.1

p.R643R

c.1929A>G

1 paper

NM_004333.6

p.R603R

c.1809A>C

2 papers

NM_004333.6

p.T599_R603delins

c.1796_1809delinsTC

1 paper

NM_004333.6

p.S602fs

c.1804_1805fs

8 papers

NM_004333.6

p.W604G

c.1810T>G