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.L485_P490del0

c.1455_1469del15

Surrounding Variants

1 paper

NM_004333.6

p.P490H

c.1469C>A

1 paper

NM_004333.6

p.T491A

c.1471A>G

9 papers

NM_004333.6

p.P490del1

c.1468_1469delAGG

1 paper

NM_004333.6

p.N486_T491delins

c.1456_1471delinsT

1 paper

NM_004333.6

p.L485_P490delFs

c.1455_1470del16

3 papers

NM_004333.6

p.T491I

c.1472C>T

2 papers

NM_004333.6

p.P490S

c.1468C>T

1 paper

NM_004333.6

p.P490A

c.1468C>G

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.A489Fs

c.1465_1467delinsAFs

1 paper

NM_004333.6

p.N486_A489del0

c.1458_1466del9