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

2 papers

NM_001042492.3

p.N1861fs

c.5581_5582fs

NM_000267.3

p.N1840fs

c.5518_5519fs

Surrounding Variants

1 paper

NM_000267.3

p.N1840_L1841ins4

c.5518_5522ins12

1 paper

NM_001042492.3

p.L1860_N1861insFs

c.5580_5581insA

1 paper

NM_000267.3

p.N1840K

c.5520T>A

3 papers

NM_000267.3

p.N1840K

c.5520T>G

NM_001042492.3

p.N1861K

c.5583T>G

1 paper

NM_000267.3

p.L1838F

c.5514A>C

2 papers

NM_001042492.3

p.L1859L

c.5577A>G

1 paper

NM_000267.3

p.L1838F

c.5514A>T

1 paper

NM_001042492.3

p.L1862*

c.5585T>A

1 paper

NM_001042492.3

p.L1862*

c.5585T>G

1 paper

NM_000267.3

p.G1842_D1845del4

c.5524_5534del12

3 papers

NM_001042492.3

p.L1859*

c.5576T>A

3 papers

NM_001042492.3

p.L1859*

c.5576T>G