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.C251R

c.751T>C

Surrounding Variants

2 papers

NM_004333.6

p.C251S

c.751T>A

2 papers

NM_004333.6

p.D249_F250delFs

c.746_750del5

2 papers

NM_004333.6

p.D249_F250del0

c.745_750del6

1 paper

NM_004333.6

p.D249_F250delFs

c.746_749del4

2 papers

NM_004333.6

p.F250_C251delFs

c.750_751delAA

2 papers

NM_004333.6

p.D249_C251del0

c.746_751del6

1 paper

NM_004333.6

p.F250S

c.749T>C

1 paper

NM_004333.6

p.C251*

c.753T>A

2 papers

NM_004333.6

p.D249_F250del1

c.746_748delAGT

1 paper

NM_004333.6

p.C251delFs

c.752delC

1 paper

NM_004333.6

p.R252*

c.754C>T

1 paper

NM_004333.6

p.R252R

c.754C>A