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

2 papers

NM_004333.6

p.P492A

c.1474C>G

Surrounding Variants

1 paper

NM_004333.6

p.P492T

c.1474C>A

1 paper

NM_004333.6

p.V487_T491del0

c.1459_1473del15

4 papers

NM_004333.6

p.N486_T491del6

c.1456_1472del18

1 paper

NM_004333.6

p.P492R

c.1475C>G

3 papers

NM_004333.6

p.V487_P492del0

c.1460_1474del15

4 papers

NM_004333.6

p.N486_T491del0

c.1458_1472del15

1 paper

NM_004333.6

p.V487_P492del0

c.1461_1475del15

3 papers

NM_004333.6

p.T491I

c.1472C>T

1 paper

NM_004333.6

p.T491K

c.1472C>A

17 papers

NM_004333.6

p.N486_T491del0

c.1457_1471del15

1 paper

NM_004333.6

p.Q493E

c.1477C>G

1 paper

NM_004333.6

p.P492insFs

c.1476dupT