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

4 papers

NM_001042492.3

p.V166fs

c.496_497fs

Surrounding Variants

1 paper

NM_001042492.3

p.V166I

c.496G>A

9 papers

NM_001042492.3

p.V166fs

c.496_497fs

2 papers

NM_001042492.3

p.V166A

c.497T>C

1 paper

NM_001042492.3

p.V166G

c.497T>G

1 paper

NM_001042492.3

p.V166_C167insFs

c.498_499insGT

1 paper

NM_001042492.3

p.V166_D170del5

c.496_509del15

1 paper

NM_001042492.3

p.V166_L180del15

c.496_539del45

3 papers

NM_001042492.3

p.T165S

c.494C>G

2 papers

NM_001042492.3

p.T165I

c.494C>T

10 papers

NM_001042492.3

p.V166delFs

c.496_497delGT

57 papers

NM_001042492.3

p.C167_S168delFs

c.499_502del4

1 paper

NM_001042492.3

p.E169_H175delFs

c.505_524del20