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.Q963H

c.2889A>C

Surrounding Variants

1 paper

NM_001042492.3

p.Q963H

c.2889A>T

1 paper

NM_001042492.3

p.T964fs

c.2890_2891fs

1 paper

NM_001042492.3

p.T964P

c.2890A>C

1 paper

NM_001042492.3

p.T964_I965Fs

c.2890_2893delinsTCTFs

1 paper

NM_001042492.3

p.Q963insFs

c.2887_2888insA

7 papers

NM_001042492.3

p.Q963*

c.2887C>T

1 paper

NM_001042492.3

p.Q963fs

c.2887_2888fs

1 paper

NM_001042492.3

p.Q963_I965delFs

c.2889_2893del5

1 paper

NM_001042492.3

p.E962G

c.2885A>G

1 paper

NM_001042492.3

p.E962_A966del0

c.2886_2897del12

3 papers

NM_001042492.3

p.E962*

c.2884G>T

1 paper

NM_001042492.3

p.E962fs

c.2884_2885fs