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

2 papers

NM_001042492.3

p.H31_S35delFs

c.91_103del13

Surrounding Variants

2 papers

NM_001042492.3

p.T30P

c.88A>C

2 papers

NM_001042492.3

p.T30A

c.88A>G

1 paper

NM_001042492.3

p.N29K

c.87C>A

1 paper

NM_001042492.3

p.T30K

c.89C>A

1 paper

NM_001042492.3

p.N29K

c.87C>G

1 paper

NM_001042492.3

p.T30I

c.89C>T

2 papers

NM_001042492.3

p.T30delFs

c.88delA

1 paper

NM_001042492.3

p.H31_K33del3

c.91_98del9

2 papers

NM_001042492.3

p.N29S

c.86A>G

1 paper

NM_001042492.3

p.N29delFs

c.87delC

1 paper

NM_001042492.3

p.H31_T32del2

c.91_95del6

1 paper

NM_001042492.3

p.N29H

c.85A>C