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.S15G

c.43A>G

Surrounding Variants

1 paper

NM_001042492.3

p.S15insFs

c.44dupG

1 paper

NM_001042492.3

p.S15fs

c.43_44fs

1 paper

NM_001042492.3

p.S15delFs

c.44delG

1 paper

NM_001042492.3

p.S15delFs

c.44_45delGC

1 paper

NM_001042492.3

p.V14_S15ins1

c.42_43insTCA

2 papers

NM_001042492.3

p.S15delFs

c.43delA

1 paper

NM_001042492.3

p.S15delFs

c.43_44delAG

2 papers

NM_001042492.3

p.S15N

c.44G>A

1 paper

NM_001042492.3

p.S15T

c.44G>C

2 papers

NM_001042492.3

p.R16delFs

c.46delC

1 paper

NM_001042492.3

p.R16_D18insFs

c.46_52dup7

6 papers

NM_001042492.3

p.V14D

c.41T>A