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.T2625S

c.7873A>T

Surrounding Variants

1 paper

NM_001042492.3

p.T2625insFs

c.7875dupA

1 paper

NM_001042492.3

p.T2625I

c.7874C>T

1 paper

NM_001042492.3

p.A2624T

c.7870G>A

2 papers

NM_001042492.3

p.A2624P

c.7870G>C

2 papers

NM_001042492.3

p.L2623_A2624Splc

c.7870-1G>A

1 paper

NM_001042492.3

p.L2623_A2624Splc

c.7870-1G>T

1 paper

NM_001042492.3

p.L2623_A2624Splc

c.7870-3C>G

1 paper

NM_001042492.3

p.K2628_Y2629delFs

c.7882_7886del5

1 paper

NM_000267.3

p.L2602_A2603Splc

c.7807-6T>A

2 papers

NM_001042492.3

p.Y2629_T2630delFs

c.7887_7888delTA

1 paper

NM_001042492.3

p.Y2629fs

c.7885_7886fs

1 paper

NM_001042492.3

p.Y2629delFs

c.7887delT