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.F443F

c.1329T>C

Surrounding Variants

3 papers

NM_001042492.3

p.F443L

c.1329T>A

3 papers

NM_001042492.3

p.F443L

c.1329T>G

2 papers

NM_001042492.3

p.G444S

c.1330G>A

3 papers

NM_001042492.3

p.G444R

c.1330G>C

4 papers

NM_001042492.3

p.F443S

c.1328T>C

1 paper

NM_001042492.3

p.F443C

c.1328T>G

2 papers

NM_001042492.3

p.G444D

c.1331G>A

1 paper

NM_001042492.3

p.G444A

c.1331G>C

1 paper

NM_001042492.3

p.G444insFs

c.1331_1332insA

1 paper

NM_001042492.3

p.G444_E445delins

c.1331_1333delinsATA

3 papers

NM_001042492.3

p.F443L

c.1327T>C

1 paper

NM_001042492.3

p.F443fs

c.1327_1328fs