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.C2254delFs

c.6760delT

Surrounding Variants

2 papers

NM_001042492.3

p.G2253E

c.6758G>A

3 papers

NM_001042492.3

p.G2253W

c.6757G>T

2 papers

NM_001042492.3

p.C2254_H2261delFs

c.6762_6783del22

2 papers

NM_001042492.3

p.G2253delFs

c.6757delG

1 paper

NM_001042492.3

p.I2255delFs

c.6765delT

1 paper

NM_001042492.3

p.S2256C

c.6766A>T

1 paper

NM_001042492.3

p.S2256fs

c.6766_6767fs

1 paper

NM_001042492.3

p.V2251F

c.6751G>T

2 papers

NM_000267.3

p.V2230fs

c.6688_6689fs

1 paper

NM_001042492.3

p.K2257insFs

c.6770dupA

1 paper

NM_000267.3

p.V2230delFs

c.6688delG

1 paper

NM_000267.3

p.V2230del1

c.6688_6689delGTC