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.T1843S

c.5527A>T

Surrounding Variants

1 paper

NM_001042492.3

p.T1843insFs

c.5529dupC

1 paper

NM_001042492.3

p.H1842Q

c.5526C>A

1 paper

NM_001042492.3

p.H1842Q

c.5526C>G

1 paper

NM_001042492.3

p.H1842P

c.5525A>C

1 paper

NM_001042492.3

p.K1844*

c.5530A>T

2 papers

NM_000267.3

p.K1823fs

c.5467_5468fs

NM_001042492.3

p.K1844fs

c.5530_5531fs

1 paper

NM_000267.3

p.H1821D

c.5461C>G

1 paper

NM_001042492.3

p.H1842fs

c.5524_5525fs

2 papers

NM_001042492.3

p.K1844T

c.5531A>C

1 paper

NM_001042492.3

p.Q1841H

c.5523A>C

1 paper

NM_001042492.3

p.Q1841H

c.5523A>T

1 paper

NM_001042492.3

p.H1842_I1845del4

c.5524_5534del12