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.E230K

c.688G>A

Surrounding Variants

1 paper

NM_001042492.3

p.E230Q

c.688G>C

4 papers

NM_001042492.3

p.E230*

c.688G>T

1 paper

NM_001042492.3

p.E230delFs

c.689delA

2 papers

NM_001042492.3

p.E230G

c.689A>G

3 papers

NM_001042492.3

p.E230delFs

c.688delG

1 paper

NM_001042492.3

p.E230D

c.690A>C

2 papers

NM_001042492.3

p.D229G

c.686A>G

1 paper

NM_001042492.3

p.E230E

c.690A>G

2 papers

NM_001042492.3

p.E230D

c.690A>T

1 paper

NM_001042492.3

p.D229V

c.686A>T

2 papers

NM_001042492.3

p.F231delFs

c.693delT

1 paper

NM_001042492.3

p.D229H

c.685G>C