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.P1416S

c.4246C>T

Surrounding Variants

4 papers

NM_001042492.3

p.N1415K

c.4245T>A

4 papers

NM_001042492.3

p.N1415K

c.4245T>G

1 paper

NM_000267.3

p.N1394H

c.4180A>C

1 paper

NM_000267.3

p.N1394D

c.4180A>G

2 papers

NM_000267.3

p.N1394Y

c.4180A>T

NM_001042492.3

p.N1415Y

c.4243A>T

1 paper

NM_000267.3

p.N1394fs

c.4180_4181fs

2 papers

NM_001042492.3

p.A1417T

c.4249G>A

1 paper

NM_001042492.3

p.A1417S

c.4249G>T

1 paper

NM_001042492.3

p.A1417delFs

c.4251delC

2 papers

NM_001042492.3

p.A1417D

c.4250C>A

1 paper

NM_000267.3

p.N1394delFs

c.4181delA

1 paper

NM_001042492.3

p.I1414fs

c.4240_4241fs