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

9 papers

NM_001042492.3

p.Q28*

c.82C>T

Surrounding Variants

1 paper

NM_001042492.3

p.Q28delFs

c.83delA

1 paper

NM_001042492.3

p.Q28delFs

c.83_84delAG

1 paper

NM_001042492.3

p.Q28_T30del0

c.83_88del6

1 paper

NM_001042492.3

p.Q28P

c.83A>C

1 paper

NM_001042492.3

p.Q28R

c.83A>G

1 paper

NM_001042492.3

p.Q28L

c.83A>T

1 paper

NM_001042492.3

p.Q28delFs

c.84delG

1 paper

NM_001042492.3

p.Q27H

c.81G>C

1 paper

NM_001042492.3

p.Q27H

c.81G>T

1 paper

NM_001042492.3

p.Q28delFs

c.82delC

1 paper

NM_001042492.3

p.Q28_N29del2

c.82_86del6

1 paper

NM_001042492.3

p.Q28_T30del3

c.82_89del9