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.F1347fs

c.4039_4040fs

Surrounding Variants

1 paper

NM_001042492.3

p.H1348D

c.4042C>G

1 paper

NM_001042492.3

p.H1348delFs

c.4043delA

1 paper

NM_001042492.3

p.F1346V

c.4036T>G

1 paper

NM_001042492.3

p.F1346fs

c.4036_4037fs

1 paper

NM_001042492.3

p.H1348R

c.4043A>G

1 paper

NM_001042492.3

p.H1348H

c.4044T>C

3 papers

NM_001042492.3

p.K1345*

c.4033A>T

1 paper

NM_001042492.3

p.K1345fs

c.4033_4034fs

3 papers

NM_001042492.3

p.A1349T

c.4045G>A

1 paper

NM_001042492.3

p.A1349insFs

c.4045_4046insT

1 paper

NM_001042492.3

p.K1345_F1347del3

c.4033_4040del9

1 paper

NM_001042492.3

p.A1349D

c.4046C>A