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.Q400H

c.1200G>C

Surrounding Variants

1 paper

NM_001042492.3

p.Q400H

c.1200G>T

2 papers

NM_001042492.3

p.N401delFs

c.1201delA

1 paper

NM_001042492.3

p.N401fs

c.1201_1202fs

1 paper

NM_001042492.3

p.N401_S402insGC

c.1201_1205ins6

1 paper

NM_001042492.3

p.Q400P

c.1199A>C

1 paper

NM_001042492.3

p.Q400R

c.1199A>G

1 paper

NM_001042492.3

p.Q400delFs

c.1200delG

2 papers

NM_001042492.3

p.S402delFs

c.1204delT

1 paper

NM_001042492.3

p.Q400insFs

c.1198_1199insG

2 papers

NM_001042492.3

p.Q400fs

c.1198_1199fs

1 paper

NM_001042492.3

p.Q400E

c.1198C>G

10 papers

NM_001042492.3

p.Q400*

c.1198C>T