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

3 papers

NM_004333.6

p.P25L

c.74C>T

Surrounding Variants

2 papers

NM_004333.6

p.P25S

c.73C>T

1 paper

NM_004333.6

p.P25A

c.73C>G

3 papers

NM_004333.6

p.P25T

c.73C>A

1 paper

NM_004333.6

p.P25P

c.75C>A

1 paper

NM_004333.6

p.P25fs

c.73_74fs

1 paper

NM_004333.6

p.E26*

c.76G>T

1 paper

NM_004333.6

p.E24D

c.72G>T

1 paper

NM_004333.6

p.E26_A27insGGT

c.76_80ins9

1 paper

NM_004333.6

p.E26insFs

c.76_77ins4

1 paper

NM_004333.6

p.E26Q

c.76G>C

1 paper

NM_004333.6

p.E24D

c.72G>C

1 paper

NM_004333.6

p.E26K

c.76G>A