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.V13V

c.39G>C

Surrounding Variants

1 paper

NM_001042492.3

p.V13Fs

c.39delinsGGAAAGACFs

1 paper

NM_001042492.3

p.V13_V14delins

c.39_40delinsCT

1 paper

NM_001042492.3

p.V14delFs

c.40_41delGT

11 papers

NM_001042492.3

p.V14I

c.40G>A

1 paper

NM_001042492.3

p.V14insFs

c.40_41ins5

1 paper

NM_001042492.3

p.V14F

c.40G>T

1 paper

NM_001042492.3

p.V14delFs

c.41delT

1 paper

NM_001042492.3

p.V14fs

c.40_41fs

1 paper

NM_001042492.3

p.V14_S15del1

c.41_43delTCA

1 paper

NM_001042492.3

p.V13E

c.38T>A

1 paper

NM_001042492.3

p.V13A

c.38T>C

3 papers

NM_001042492.3

p.V14insFs

c.40dupG