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.N401N

c.1203T>C

Surrounding Variants

2 papers

NM_001042492.3

p.S402delFs

c.1204delT

1 paper

NM_001042492.3

p.S402A

c.1204T>G

1 paper

NM_001042492.3

p.S402fs

c.1204_1205fs

1 paper

NM_001042492.3

p.S402delFs

c.1205_1206delCA

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.S402*

c.1205C>A

1 paper

NM_001042492.3

p.S402*

c.1205C>G

2 papers

NM_001042492.3

p.S402L

c.1205C>T

1 paper

NM_001042492.3

p.P403delFs

c.1207delC

1 paper

NM_001042492.3

p.P403_S404del2

c.1207_1211del6

1 paper

NM_001042492.3

p.Q400H

c.1200G>C