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.W2494L

c.7481G>T

Surrounding Variants

8 papers

NM_001042492.3

p.W2494*

c.7481G>A

9 papers

NM_001042492.3

p.W2494*

c.7482G>A

1 paper

NM_000267.3

p.W2473fs

c.7417_7418fs

1 paper

NM_001042492.3

p.W2494delFs

c.7481_7482delGG

1 paper

NM_000267.3

p.W2473_S2475Fs

c.7417_7425delinsAAGGTFs

1 paper

NM_001042492.3

p.P2493P

c.7479A>G

4 papers

NM_001042492.3

p.S2495F

c.7484C>T

1 paper

NM_001042492.3

p.S2495_S2496insFs

c.7485_7486insGG

1 paper

NM_001042492.3

p.S2496insFs

c.7486_7487insGG

1 paper

NM_001042492.3

p.S2496C

c.7487C>G

3 papers

NM_001042492.3

p.S2496F

c.7487C>T

6 papers

NM_000267.3

p.Q2471*

c.7411C>T

NM_001042492.3

p.Q2492*

c.7474C>T