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.C1365fs

c.4093_4094fs

Surrounding Variants

1 paper

NM_001042492.3

p.C1365R

c.4093T>C

1 paper

NM_001042492.3

p.C1365fs

c.4093_4094fs

1 paper

NM_001042492.3

p.C1365insFs

c.4093_4094insTG

4 papers

NM_001042492.3

p.C1365*

c.4095C>A

5 papers

NM_001042492.3

p.C1365_H1366insFs

c.4095_4096insTG

1 paper

NM_001042492.3

p.V1364insFs

c.4091_4092ins5

1 paper

NM_001042492.3

p.V1364_H1366delFs

c.4092_4098del7

1 paper

NM_001042492.3

p.H1366N

c.4096C>A

1 paper

NM_001042492.3

p.H1366fs

c.4096_4097fs

1 paper

NM_001042492.3

p.V1364M

c.4090G>A

1 paper

NM_001042492.3

p.V1364fs

c.4090_4091fs

1 paper

NM_001042492.3

p.V1364fs

c.4090_4091fs