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

9 papers

NM_004333.6

p.L597L

c.1791A>G

Surrounding Variants

1 paper

NM_004333.6

p.L597L

c.1791A>T

1 paper

NM_004333.6

p.L597delFs

c.1789_1790delAG

238 papers

NM_004333.6

p.L597R

c.1790T>G

26 papers

NM_004333.6

p.L597P

c.1790T>C

215 papers

NM_004333.6

p.L597Q

c.1790T>A

8 papers

NM_004333.6

p.L597delins

c.1789_1790delinsTC

1 paper

NM_004333.6

p.L597delins

c.1789_1790delinsAA

2 papers

NM_004333.6

p.A598S

c.1792G>T

1 paper

NM_004333.6

p.A598_T599ins8

c.1792_1796ins24

1 paper

NM_004333.6

p.A598_T599ins14

c.1792_1796ins42

1 paper

NM_004333.6

p.A598P

c.1792G>C

20 papers

NM_004333.6

p.A598T

c.1792G>A