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.Q531insFs

c.1593dupA

Surrounding Variants

1 paper

NM_001042492.3

p.Q531fs

c.1591_1592fs

1 paper

NM_001042492.3

p.Q531*

c.1591C>T

1 paper

NM_001042492.3

p.Q531delFs

c.1592delA

2 papers

NM_001042492.3

p.Q531fs

c.1591_1592fs

1 paper

NM_001042492.3

p.Q531P

c.1592A>C

1 paper

NM_001042492.3

p.Q531L

c.1592A>T

1 paper

NM_001042492.3

p.V530_Q531insFs

c.1590_1591insTT

2 papers

NM_001042492.3

p.Q531H

c.1593A>C

2 papers

NM_001042492.3

p.Q531H

c.1593A>T

2 papers

NM_001042492.3

p.V530A

c.1589T>C

1 paper

NM_001042492.3

p.L532fs

c.1594_1595fs

1 paper

NM_001042492.3

p.L532insFs

c.1595dupT