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.P458Q

c.1373C>A

Surrounding Variants

1 paper

NM_001042492.3

p.P458insFs

c.1374dupA

1 paper

NM_001042492.3

p.P458L

c.1373C>T

1 paper

NM_001042492.3

p.P458fs

c.1372_1373fs

1 paper

NM_001042492.3

p.P458A

c.1372C>G

2 papers

NM_001042492.3

p.P458S

c.1372C>T

1 paper

NM_001042492.3

p.P458fs

c.1372_1373fs

3 papers

NM_001042492.3

p.H457Q

c.1371C>A

3 papers

NM_001042492.3

p.H457Q

c.1371C>G

1 paper

NM_001042492.3

p.A459T

c.1375G>A

1 paper

NM_001042492.3

p.A459fs

c.1375_1376fs

2 papers

NM_001042492.3

p.H457L

c.1370A>T

2 papers

NM_001042492.3

p.P458delFs

c.1373delC