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.P453A

c.1357C>G

Surrounding Variants

1 paper

NM_004333.6

p.P453S

c.1357C>T

5 papers

NM_004333.6

p.P453T

c.1357C>A

1 paper

NM_004333.6

p.I452M

c.1356T>G

2 papers

NM_004333.6

p.P453L

c.1358C>T

6 papers

NM_004333.6

p.P453H

c.1358C>A

1 paper

NM_004333.6

p.I452S

c.1355T>G

4 papers

NM_001378473.1

p.P401P

c.1203T>C

NM_004333.6

p.P453P

c.1359T>C

1 paper

NM_004333.6

p.I452N

c.1355T>A

2 papers

NM_004333.6

p.D454H

c.1360G>C

1 paper

NM_004333.6

p.D454N

c.1360G>A

2 papers

NM_004333.6

p.E451D

c.1353G>T

1 paper

NM_001378473.1

p.E399_I400insFs

c.1197_1198insC