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.L58V

c.172C>G

Surrounding Variants

1 paper

NM_001042492.3

p.L58_T60ins1

c.173_178dup6

3 papers

NM_001042492.3

p.L58F

c.172C>T

1 paper

NM_001042492.3

p.L58delFs

c.173delT

1 paper

NM_001042492.3

p.L58delFs

c.172_173delCT

2 papers

NM_001042492.3

p.L58_L62del0

c.172_186del15

1 paper

NM_001042492.3

p.L58P

c.173T>C

1 paper

NM_001042492.3

p.L58R

c.173T>G

1 paper

NM_001042492.3

p.L58_T59delFs

c.174_175delCA

1 paper

NM_001042492.3

p.T59delFs

c.175delA

5 papers

NM_001042492.3

p.T60del1

c.178_179delACT

1 paper

NM_001042492.3

p.T59_T60delFs

c.175_178del4

4 papers

NM_001042492.3

p.G57D

c.170G>A