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

1 paper

NM_004333.6

p.E71_P75del5

c.211_224del15

Surrounding Variants

2 papers

NM_004333.6

p.S76P

c.226T>C

3 papers

NM_004333.6

p.S76L

c.227C>T

1 paper

NM_004333.6

p.P75P

c.225A>T

1 paper

NM_004333.6

p.P75fs

c.223_224fs

3 papers

NM_004333.6

p.P75L

c.224C>T

1 paper

NM_004333.6

p.S76S

c.228A>G

4 papers

NM_004333.6

p.P75S

c.223C>T

1 paper

NM_004333.6

p.I77V

c.229A>G

1 paper

NM_004333.6

p.I77K

c.230T>A

1 paper

NM_004333.6

p.S76delFs

c.228delT

1 paper

NM_004333.6

p.P74R

c.221C>G

1 paper

NM_004333.6

p.Y78N

c.232T>A