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.D241E

c.723T>A

Surrounding Variants

1 paper

NM_001042492.3

p.D241E

c.723T>G

5 papers

NM_001042492.3

p.M242insFs

c.724dupA

2 papers

NM_001042492.3

p.M242fs

c.724_725fs

1 paper

NM_001042492.3

p.D241insFs

c.723dupT

1 paper

NM_001042492.3

p.D241A

c.722A>C

1 paper

NM_001042492.3

p.M242L

c.724A>C

4 papers

NM_001042492.3

p.M242V

c.724A>G

1 paper

NM_001042492.3

p.D241V

c.722A>T

1 paper

NM_001042492.3

p.M242L

c.724A>T

6 papers

NM_001042492.3

p.M242delFs

c.725delT

5 papers

NM_001042492.3

p.M242fs

c.724_725fs

2 papers

NM_001042492.3

p.D241N

c.721G>A