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

4 papers

NM_001042492.3

p.F443fs

c.1327_1328fs

Surrounding Variants

3 papers

NM_001042492.3

p.F443L

c.1327T>C

1 paper

NM_001042492.3

p.F443fs

c.1327_1328fs

1 paper

NM_001042492.3

p.G444_L447del4

c.1330_1340del12

1 paper

NM_001042492.3

p.M442I

c.1326G>A

1 paper

NM_001042492.3

p.M442I

c.1326G>C

1 paper

NM_001042492.3

p.M442I

c.1326G>T

4 papers

NM_001042492.3

p.F443delFs

c.1329delT

4 papers

NM_001042492.3

p.F443S

c.1328T>C

1 paper

NM_001042492.3

p.F443C

c.1328T>G

3 papers

NM_001042492.3

p.F443L

c.1329T>A

4 papers

NM_001042492.3

p.M442T

c.1325T>C

1 paper

NM_001042492.3

p.F443F

c.1329T>C