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.L179_L180delFs

c.536_539del4

Surrounding Variants

1 paper

NM_001042492.3

p.L179_Q181del3

c.535_542del9

1 paper

NM_001042492.3

p.L179L

c.535T>C

1 paper

NM_001042492.3

p.L179fs

c.535_536fs

1 paper

NM_001042492.3

p.E178insFs

c.534dupA

1 paper

NM_001042492.3

p.E178insFs

c.533_534dupAA

8 papers

NM_001042492.3

p.E178*

c.532G>T

2 papers

NM_001042492.3

p.L179*

c.536T>A

1 paper

NM_001042492.3

p.E178insFs

c.532dupG

1 paper

NM_001042492.3

p.I177M

c.531A>G

2 papers

NM_001042492.3

p.L179F

c.537G>C

2 papers

NM_001042492.3

p.L179F

c.537G>T

1 paper

NM_001042492.3

p.L180delFs

c.538delT