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.V2471delFs

c.7413delT

Surrounding Variants

1 paper

NM_001042492.3

p.V2471A

c.7412T>C

1 paper

NM_001042492.3

p.P2472insFs

c.7415_7416insC

1 paper

NM_001042492.3

p.P2472delFs

c.7415delC

1 paper

NM_001042492.3

p.N2470fs

c.7408_7409fs

1 paper

NM_000267.3

p.N2449fs

c.7345_7346fs

2 papers

NM_001042492.3

p.P2472fs

c.7414_7415fs

1 paper

NM_001042492.3

p.P2472A

c.7414C>G

2 papers

NM_000267.3

p.P2451H

c.7352C>A

NM_001042492.3

p.P2472H

c.7415C>A

1 paper

NM_000267.3

p.P2451P

c.7353T>C

1 paper

NM_001042492.3

p.M2473fs

c.7417_7418fs

1 paper

NM_001042492.3

p.M2473fs

c.7417_7418fs

1 paper

NM_001042492.3

p.E2469*

c.7405G>T