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

4 papers

NM_001042492.3

p.Y580fs

c.1738_1739fs

Surrounding Variants

1 paper

NM_001042492.3

p.Y580H

c.1738T>C

1 paper

NM_001042492.3

p.Y580D

c.1738T>G

2 papers

NM_001042492.3

p.Y580fs

c.1738_1739fs

1 paper

NM_001042492.3

p.F579L

c.1737T>A

1 paper

NM_001042492.3

p.F579L

c.1737T>G

1 paper

NM_001042492.3

p.Y580_I581del2

c.1738_1742del6

2 papers

NM_001042492.3

p.F579C

c.1736T>G

2 papers

NM_001042492.3

p.F579_Y580del1

c.1737_1739delTTA

5 papers

NM_001042492.3

p.I581insFs

c.1742dupT

1 paper

NM_001042492.3

p.I581L

c.1741A>C

3 papers

NM_001042492.3

p.I581V

c.1741A>G

1 paper

NM_001042492.3

p.F579L

c.1735T>C