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.V1244fs

c.3730_3731fs

Surrounding Variants

1 paper

NM_001042492.3

p.V1244I

c.3730G>A

1 paper

NM_001042492.3

p.V1244insFs

c.3732dupT

7 papers

NM_001042492.3

p.V1244delFs

c.3732delT

1 paper

NM_001042492.3

p.V1244fs

c.3730_3731fs

6 papers

NM_001042492.3

p.L1243P

c.3728T>C

1 paper

NM_001042492.3

p.L1243R

c.3728T>G

2 papers

NM_001042492.3

p.V1244delFs

c.3730delG

2 papers

NM_001042492.3

p.T1245fs

c.3733_3734fs

1 paper

NM_001042492.3

p.T1245A

c.3733A>G

3 papers

NM_001042492.3

p.T1245S

c.3733A>T

2 papers

NM_001042492.3

p.L1246delFs

c.3736_3737delCT

1 paper

NM_001042492.3

p.T1245fs

c.3733_3734fs