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

18 papers

NM_001042492.3

p.C167fs

c.499_500fs

Surrounding Variants

2 papers

NM_001042492.3

p.C167S

c.499T>A

3 papers

NM_001042492.3

p.C167G

c.499T>G

28 papers

NM_001042492.3

p.C167fs

c.499_500fs

3 papers

NM_001042492.3

p.C167Y

c.500G>A

2 papers

NM_001042492.3

p.C167S

c.500G>C

1 paper

NM_001042492.3

p.C167delFs

c.501delT

1 paper

NM_001042492.3

p.E169_H175delFs

c.505_524del20

4 papers

NM_001042492.3

p.C167*

c.501T>A

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.S168_D170ins1

c.502_510dup9

1 paper

NM_001042492.3

p.V166_C167insFs

c.498_499insGT