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

1 paper

NM_001042492.3

p.V451M

c.1351G>A

Surrounding Variants

2 papers

NM_001042492.3

p.V451A

c.1352T>C

1 paper

NM_001042492.3

p.V451G

c.1352T>G

1 paper

NM_001042492.3

p.V451ins3

c.1352_1353ins9

1 paper

NM_001042492.3

p.Q452insFs

c.1356dupA

4 papers

NM_001042492.3

p.Q452*

c.1354C>T

1 paper

NM_001042492.3

p.A450T

c.1348G>A

1 paper

NM_001042492.3

p.A450fs

c.1348_1349fs

1 paper

NM_001042492.3

p.K449N

c.1347A>C

1 paper

NM_001042492.3

p.K449N

c.1347A>T

1 paper

NM_001042492.3

p.Q452L

c.1355A>T

2 papers

NM_001042492.3

p.Q452H

c.1356A>C

2 papers

NM_001042492.3

p.Q452Q

c.1356A>G