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

3 papers

NM_001042492.3

p.G2281*

c.6841G>T

Surrounding Variants

1 paper

NM_001042492.3

p.G2281delFs

c.6841delG

1 paper

NM_001042492.3

p.P2282L

c.6845C>T

1 paper

NM_001042492.3

p.P2282P

c.6846T>C

1 paper

NM_000267.3

p.D2262insFs

c.6784dupG

3 papers

NM_000267.3

p.D2262fs

c.6784_6785fs

NM_001042492.3

p.D2283fs

c.6847_6848fs

1 paper

NM_000267.3

p.D2262fs

c.6784_6785fs

1 paper

NM_000267.3

p.D2262_L2269delFs

c.6786_6807del22

41 papers

NM_001042492.3

p.T2284_Y2285delFs

c.6852_6855del4

NM_000267.3

p.T2263_Y2264delFs

c.6789_6792del4

5 papers

NM_001042492.3

p.T2284fs

c.6850_6851fs

1 paper

NM_000267.3

p.C2257insFs

c.6770_6771insG

1 paper

NM_000267.3

p.C2257fs

c.6769_6770fs

1 paper

NM_000267.3

p.Y2264insFs

c.6790_6791insTT