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.D1781delFs

c.5341delG

Surrounding Variants

1 paper

NM_001042492.3

p.D1781Y

c.5341G>T

1 paper

NM_001042492.3

p.D1781fs

c.5341_5342fs

1 paper

NM_001042492.3

p.D1781V

c.5342A>T

1 paper

NM_000267.3

p.N1759fs

c.5275_5276fs

1 paper

NM_001042492.3

p.I1782V

c.5344A>G

3 papers

NM_001042492.3

p.Y1783delFs

c.5347delT

1 paper

NM_001042492.3

p.L1779P

c.5336T>C

2 papers

NM_000267.3

p.N1759delFs

c.5276delA

NM_001042492.3

p.L1779delFs

c.5337delA

3 papers

NM_001042492.3

p.Y1783_Y1784del2

c.5347_5351del6

1 paper

NM_001042492.3

p.Y1783H

c.5347T>C

2 papers

NM_001042492.3

p.Y1783fs

c.5347_5348fs

1 paper

NM_001042492.3

p.Y1783delFs

c.5348delA