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

3 papers

NM_001042492.3

p.I1824S

c.5471T>G

Surrounding Variants

1 paper

NM_001042492.3

p.I1824T

c.5471T>C

1 paper

NM_001042492.3

p.I1824insFs

c.5472dupC

1 paper

NM_001042492.3

p.I1824fs

c.5470_5471fs

3 papers

NM_001042492.3

p.I1824F

c.5470A>T

1 paper

NM_001042492.3

p.I1824fs

c.5470_5471fs

1 paper

NM_001042492.3

p.I1824I

c.5472C>A

1 paper

NM_001042492.3

p.I1824M

c.5472C>G

1 paper

NM_001042492.3

p.S1823Y

c.5468C>A

2 papers

NM_001042492.3

p.S1823insFs

c.5468_5469insT

1 paper

NM_001042492.3

p.I1825T

c.5474T>C

1 paper

NM_001042492.3

p.S1823fs

c.5467_5468fs

1 paper

NM_000267.3

p.H1805D

c.5413C>G