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.Q11delFs

c.32_33delAG

Surrounding Variants

11 papers

NM_001042492.3

p.Q11*

c.31C>T

1 paper

NM_001042492.3

p.Q11delFs

c.32delA

1 paper

NM_001042492.3

p.Q11R

c.32A>G

1 paper

NM_001042492.3

p.Q11delFs

c.33delG

1 paper

NM_001042492.3

p.Q11_A12delFs

c.33_34delGG

2 papers

NM_001042492.3

p.V10V

c.30C>A

1 paper

NM_001042492.3

p.V10_Q11insFs

c.30_31insA

1 paper

NM_001042492.3

p.Q11delFs

c.31_32delCA

1 paper

NM_001042492.3

p.Q11del1

c.31_33delCAG

1 paper

NM_001042492.3

p.Q11Q

c.33G>A

2 papers

NM_001042492.3

p.Q11H

c.33G>C

1 paper

NM_001042492.3

p.A12insFs

c.34_35insTG