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_004333.6

p.Q461_R462delFs

c.1383_1384delTT

Surrounding Variants

29 papers

NM_004333.6

p.R462I

c.1385G>T

6 papers

NM_004333.6

p.R462T

c.1385G>C

9 papers

NM_004333.6

p.R462K

c.1385G>A

1 paper

NM_001378473.1

p.R410delFs

c.1228delT

1 paper

NM_004333.6

p.R462*

c.1384A>T

1 paper

NM_004333.6

p.R462G

c.1384A>G

1 paper

NM_004333.6

p.Q461del1

c.1381_1382delTTG

4 papers

NM_004333.6

p.I463V

c.1387A>G

1 paper

NM_004333.6

p.Q461Q

c.1383A>G

25 papers

NM_004333.6

p.I463S

c.1388T>G

1 paper

NM_004333.6

p.I463T

c.1388T>C

1 paper

NM_004333.6

p.I463N

c.1388T>A