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.Y408D

c.1222T>G

Surrounding Variants

3 papers

NM_001042492.3

p.Y408C

c.1223A>G

1 paper

NM_001042492.3

p.V409delFs

c.1226_1227delTG

2 papers

NM_001042492.3

p.Y408delFs

c.1223_1224delAT

1 paper

NM_001042492.3

p.H407L

c.1220A>T

5 papers

NM_001042492.3

p.Y408*

c.1224T>A

5 papers

NM_001042492.3

p.Y408*

c.1224T>G

1 paper

NM_001042492.3

p.H407fs

c.1219_1220fs

1 paper

NM_001042492.3

p.H407Y

c.1219C>T

1 paper

NM_001042492.3

p.H407delFs

c.1220delA

2 papers

NM_001042492.3

p.V409M

c.1225G>A

1 paper

NM_001042492.3

p.V409L

c.1225G>C

2 papers

NM_001042492.3

p.V409L

c.1225G>T