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.Y433S

c.1298A>C

Surrounding Variants

1 paper

NM_001042492.3

p.Y433C

c.1298A>G

2 papers

NM_001042492.3

p.Y433F

c.1298A>T

5 papers

NM_001042492.3

p.Y433*

c.1299T>A

5 papers

NM_001042492.3

p.Y433*

c.1299T>G

1 paper

NM_001042492.3

p.Y433fs

c.1297_1298fs

2 papers

NM_001042492.3

p.C434Y

c.1301G>A

1 paper

NM_001042492.3

p.C434S

c.1301G>C

1 paper

NM_001042492.3

p.C434insFs

c.1301_1302ins4

8 papers

NM_001042492.3

p.V432E

c.1295T>A

1 paper

NM_001042492.3

p.V432A

c.1295T>C

1 paper

NM_001042492.3

p.V432G

c.1295T>G

1 paper

NM_001042492.3

p.V432fs

c.1294_1295fs