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_001378473.1

p.L532V

c.1594C>G

Surrounding Variants

46 papers

NM_004333.6

p.L584F

c.1750C>T

NM_001374258.1

p.L624F

c.1870C>T

7 papers

NM_004333.6

p.L584I

c.1750C>A

4 papers

NM_004333.6

p.F583L

c.1749T>G

3 papers

NM_004333.6

p.L584R

c.1751T>G

5 papers

NM_004333.6

p.F583F

c.1749T>C

4 papers

NM_004333.6

p.L584P

c.1751T>C

4 papers

NM_004333.6

p.F583L

c.1749T>A

6 papers

NM_004333.6

p.L584L

c.1752T>C

1 paper

NM_001378473.1

p.F531Fs

c.1592delinsGCFs

3 papers

NM_004333.6

p.F583Y

c.1748T>A

1 paper

NM_001378473.1

p.F531insFs

c.1591_1592insG

4 papers

NM_004333.6

p.F583L

c.1747T>C