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

8 papers

NM_001042492.3

p.Q985*

c.2953C>T

Surrounding Variants

1 paper

NM_001042492.3

p.Q985fs

c.2953_2954fs

1 paper

NM_001042492.3

p.Q985fs

c.2953_2954fs

1 paper

NM_001042492.3

p.Q985L

c.2954A>T

1 paper

NM_001042492.3

p.Q985insFs

c.2953dupC

1 paper

NM_001042492.3

p.Q985delFs

c.2953delC

5 papers

NM_001042492.3

p.G984E

c.2951G>A

1 paper

NM_001042492.3

p.Q985_I988delFs

c.2955_2962del8

2 papers

NM_001042492.3

p.G984fs

c.2950_2951fs

1 paper

NM_001042492.3

p.A986insFs

c.2956_2957insT

1 paper

NM_001042492.3

p.G984W

c.2950G>T

3 papers

NM_001042492.3

p.G984_R997del0

c.2952_2990del39

1 paper

NM_001042492.3

p.G984delFs

c.2952delG