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.N420delFs

c.1258delA

Surrounding Variants

2 papers

NM_001042492.3

p.N420fs

c.1258_1259fs

1 paper

NM_001042492.3

p.N420_S421ins3

c.1258_1262ins9

1 paper

NM_001042492.3

p.N420H

c.1258A>C

1 paper

NM_001042492.3

p.N420D

c.1258A>G

1 paper

NM_001042492.3

p.N420fs

c.1258_1259fs

1 paper

NM_001042492.3

p.T419I

c.1256C>T

2 papers

NM_001042492.3

p.N420insFs

c.1259_1260insT

1 paper

NM_001042492.3

p.N420_S421ins14

c.1260_1261ins42

2 papers

NM_001042492.3

p.N420S

c.1259A>G

1 paper

NM_001042492.3

p.N420I

c.1259A>T

2 papers

NM_001042492.3

p.T419delFs

c.1255delA

1 paper

NM_001042492.3

p.N420_S421insFs

c.1260_1261ins10