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.A617E

c.1850C>A

Surrounding Variants

2 papers

NM_001042492.3

p.A617_D618delFs

c.1851_1854del4

3 papers

NM_001042492.3

p.A617T

c.1849G>A

1 paper

NM_001042492.3

p.A617fs

c.1849_1850fs

1 paper

NM_001042492.3

p.D618N

c.1852G>A

1 paper

NM_001042492.3

p.D618H

c.1852G>C

2 papers

NM_001042492.3

p.D618fs

c.1852_1853fs

1 paper

NM_001042492.3

p.D618fs

c.1852_1853fs

1 paper

NM_001042492.3

p.A617_D618del2

c.1849_1853del6

2 papers

NM_001042492.3

p.D618G

c.1853A>G

1 paper

NM_001042492.3

p.Q616R

c.1847A>G

1 paper

NM_001042492.3

p.A617delFs

c.1849delG

1 paper

NM_001042492.3

p.R619_S621delFs

c.1855_1861del7