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.S833_L834delFs

c.2498_2501del4

Surrounding Variants

1 paper

NM_001042492.3

p.D832G

c.2495A>G

4 papers

NM_001042492.3

p.S833delFs

c.2497delT

1 paper

NM_001042492.3

p.D832N

c.2494G>A

1 paper

NM_001042492.3

p.D832insFs

c.2495_2496dupAC

1 paper

NM_001042492.3

p.D832fs

c.2494_2495fs

2 papers

NM_001042492.3

p.D832fs

c.2494_2495fs

1 paper

NM_001042492.3

p.S833fs

c.2497_2498fs

1 paper

NM_001042492.3

p.S833fs

c.2497_2498fs

1 paper

NM_001042492.3

p.S833F

c.2498C>T

1 paper

NM_001042492.3

p.T831delFs

c.2493delA

1 paper

NM_001042492.3

p.T831fs

c.2491_2492fs

1 paper

NM_001042492.3

p.T831P

c.2491A>C