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

4 papers

NM_000267.3

p.L1780*

c.5339T>G

NM_001042492.3

p.L1801*

c.5402T>G

Surrounding Variants

4 papers

NM_000267.3

p.L1780*

c.5339T>A

NM_001042492.3

p.L1801*

c.5402T>A

1 paper

NM_001042492.3

p.T1802delFs

c.5404delA

1 paper

NM_001042492.3

p.T1800_T1802delins

c.5399_5404delinsCCCAGC

1 paper

NM_001042492.3

p.T1802insFs

c.5406dupC

1 paper

NM_001042492.3

p.T1802fs

c.5404_5405fs

1 paper

NM_001042492.3

p.T1802S

c.5405C>G

2 papers

NM_001042492.3

p.T1802_I1803insFs

c.5406_5407insT

1 paper

NM_001042492.3

p.I1803delFs

c.5407delA

1 paper

NM_001042492.3

p.I1803fs

c.5407_5408fs

1 paper

NM_001042492.3

p.I1803V

c.5407A>G

2 papers

NM_000267.3

p.I1782delFs

c.5346delT

NM_001042492.3

p.I1803delFs

c.5408delT

2 papers

NM_001042492.3

p.I1803fs

c.5407_5408fs