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

2 papers

NM_000267.3

p.Y1401_E1402insFs

c.4203_4204insT

NM_001042492.3

p.Y1422insFs

c.4266dupT

Surrounding Variants

1 paper

NM_001042492.3

p.Y1422*

c.4266T>A

1 paper

NM_001042492.3

p.Y1422H

c.4264T>C

1 paper

NM_001042492.3

p.Y1422*

c.4266T>G

2 papers

NM_001042492.3

p.Y1422fs

c.4264_4265fs

NM_000267.3

p.Y1401fs

c.4201_4202fs

1 paper

NM_001042492.3

p.P1421P

c.4263G>A

1 paper

NM_000267.3

p.E1402insFs

c.4204_4205insT

4 papers

NM_001042492.3

p.E1423*

c.4267G>T

1 paper

NM_000267.3

p.E1402delFs

c.4206delA

1 paper

NM_000267.3

p.P1400_Y1401Fs

c.4200_4201delinsCATAFs

1 paper

NM_001042492.3

p.E1423A

c.4268A>C

12 papers

NM_001042492.3

p.E1423G

c.4268A>G

3 papers

NM_001042492.3

p.E1423V

c.4268A>T