Varaico: Literature-Extracted Genetic Variants

NF1

4,584 papers

RefSeq Summary

This gene product appears to function as a negative regulator of the ras signal transduction pathway. Mutations in this gene have been linked to neurofibromatosis type 1, juvenile myelomonocytic leuke...

Pfam Domains

RasGAPaa 1325–1451UCSCGTPase-activator protein for Ras-like GTPase

CRAL_TRIO_2aa 1602–1736UCSCDivergent CRAL/TRIO domain

PH_NF1aa 1737–1831UCSCPH domain-like

Gene Aliases

HGNC Name

neurofibromin 1

HGNC Alias Names

neurofibromatosis; von Recklinghausen disease; Watson disease

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

117 papers

NM_001042492.3

p.R304*

c.910C>T

Surrounding Variants

1 paper

NM_001042492.3

p.R304R

c.910C>A

1 paper

NM_001042492.3

p.R304fs

c.910_911fs

4 papers

NM_001042492.3

p.R304G

c.910C>G

1 paper

NM_001042492.3

p.R304delFs

c.911delG

1 paper

NM_001042492.3

p.R304fs

c.910_911fs

1 paper

NM_001042492.3

p.L303_R304insFs

c.909_910ins5

1 paper

NM_001042492.3

p.L303_R304ins2

c.909_910ins6

1 paper

NM_001042492.3

p.L303_R304insFs

c.909_910ins7

1 paper

NM_001042492.3

p.L303L

c.909A>C

1 paper

NM_001042492.3

p.L303L

c.909A>G

2 papers

NM_001042492.3

p.L303L

c.909A>T

1 paper

NM_001042492.3

p.R304delFs

c.910delC