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.E425delFs

c.1275delT

Surrounding Variants

1 paper

NM_004333.6

p.R426K

c.1277G>A

1 paper

NM_004333.6

p.R426W

c.1276A>T

1 paper

NM_004333.6

p.K427E

c.1279A>G

1 paper

NM_004333.6

p.K427R

c.1280A>G

1 paper

NM_004333.6

p.K427N

c.1281G>T

1 paper

NM_004333.6

p.E425*

c.1273G>T

2 papers

NM_004333.6

p.S428A

c.1282T>G

3 papers

NM_004333.6

p.S428T

c.1282T>A

2 papers

NM_004333.6

p.R424L

c.1271G>T

2 papers

NM_004333.6

p.R424Q

c.1271G>A

1 paper

NM_001374258.1

p.S468L

c.1403C>T

2 papers

NM_004333.6

p.S428*

c.1283C>G