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.L2504_A2505insC

c.7510_7514ins3

Surrounding Variants

2 papers

NM_000267.3

p.Y2482*

c.7446C>A

NM_001042492.3

p.Y2503*

c.7509C>A

2 papers

NM_000267.3

p.Y2482*

c.7446C>G

NM_001042492.3

p.Y2503*

c.7509C>G

1 paper

NM_000267.3

p.L2483_T2486delFs

c.7448_7457del10

1 paper

NM_001042492.3

p.L2504P

c.7511T>C

1 paper

NM_001042492.3

p.Y2503C

c.7508A>G

1 paper

NM_001042492.3

p.G2502E

c.7505G>A

2 papers

NM_001042492.3

p.G2502*

c.7504G>T

1 paper

NM_001042492.3

p.A2506_T2507delFs

c.7517_7520del4

1 paper

NM_001042492.3

p.A2506_Y2508Fs

c.7517_7523delinsATFs

1 paper

NM_001042492.3

p.T2507delFs

c.7519delA

1 paper

NM_000267.3

p.T2486delFs

c.7458delC

5 papers

NM_001042492.3

p.E2501*

c.7501G>T