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.P464delFs

c.1392delG

Surrounding Variants

1 paper

NM_001042492.3

p.P464Q

c.1391C>A

4 papers

NM_001042492.3

p.P464L

c.1391C>T

1 paper

NM_001042492.3

p.P464fs

c.1390_1391fs

1 paper

NM_001042492.3

p.P464_S465ins15

c.1390_1394ins45

1 paper

NM_001042492.3

p.P464S

c.1390C>T

2 papers

NM_001042492.3

p.P464fs

c.1390_1391fs

4 papers

NM_001042492.3

p.P464P

c.1392G>A

1 paper

NM_001042492.3

p.A463_P464Fs

c.1389_1390delinsGFs

5 papers

NM_001042492.3

p.P464_S465Splc

c.1392+1G>A

4 papers

NM_001042492.3

p.P464_S465Splc

c.1392+1G>T

1 paper

NM_001042492.3

p.A463E

c.1388C>A

1 paper

NM_001042492.3

p.A463V

c.1388C>T