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

5 papers

NM_001042492.3

p.Q803_A804Splc

c.2410-1G>A

Surrounding Variants

2 papers

NM_001042492.3

p.Q803_A804Splc

c.2410-2A>T

1 paper

NM_001042492.3

p.A804delFs

c.2410delG

3 papers

NM_001042492.3

p.A804T

c.2410G>A

3 papers

NM_001042492.3

p.A804P

c.2410G>C

1 paper

NM_001042492.3

p.A804fs

c.2410_2411fs

1 paper

NM_001042492.3

p.A804insFs

c.2410_2411ins17

1 paper

NM_001042492.3

p.A804S

c.2410G>T

1 paper

NM_001042492.3

p.A804fs

c.2410_2411fs

1 paper

NM_001042492.3

p.A804delFs

c.2412delT

1 paper

NM_001042492.3

p.A804_S807del0

c.2412_2420del9

1 paper

NM_001042492.3

p.Q803_A804Splc

c.2410-3T>A

2 papers

NM_001042492.3

p.Q803_A804Splc

c.2410-3T>G