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.L626P

c.1877T>C

Surrounding Variants

1 paper

NM_001042492.3

p.L626I

c.1876C>A

14 papers

NM_001042492.3

p.L626fs

c.1876_1877fs

11 papers

NM_001042492.3

p.Y628insFs

c.1882dupT

1 paper

NM_001042492.3

p.L626F

c.1876C>T

14 papers

NM_001042492.3

p.Y628delFs

c.1882delT

1 paper

NM_001042492.3

p.L625L

c.1875C>T

1 paper

NM_001042492.3

p.F627I

c.1879T>A

1 paper

NM_001042492.3

p.F627L

c.1879T>C

1 paper

NM_001042492.3

p.F627fs

c.1879_1880fs

2 papers

NM_001042492.3

p.F627fs

c.1879_1880fs

1 paper

NM_001042492.3

p.F627C

c.1880T>G

1 paper

NM_001042492.3

p.L626delFs

c.1876delC