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_000267.3

p.Y2264insFs

c.6790_6791insTT

Surrounding Variants

1 paper

NM_001042492.3

p.T2284I

c.6851C>T

5 papers

NM_001042492.3

p.T2284fs

c.6850_6851fs

41 papers

NM_001042492.3

p.T2284_Y2285delFs

c.6852_6855del4

NM_000267.3

p.T2263_Y2264delFs

c.6789_6792del4

26 papers

NM_000267.3

p.Y2264insFs

c.6791dupA

NM_001042492.3

p.Y2285insFs

c.6791_6792insA

1 paper

NM_001042492.3

p.Y2285insFs

c.6854_6855ins4

1 paper

NM_001042492.3

p.Y2285insFs

c.6853_6854insC

26 papers

NM_001042492.3

p.Y2285fs

c.6853_6854fs

NM_000267.3

p.Y2264fs

c.6790_6791fs

26 papers

NM_001042492.3

p.Y2285fs

c.6853_6854fs

NM_000267.3

p.Y2264fs

c.6790_6791fs

1 paper

NM_000267.3

p.Y2264insFs

c.6791_6792insAG

1 paper

NM_000267.3

p.D2262_L2269delFs

c.6786_6807del22

90 papers

NM_001042492.3

p.Y2285*

c.6855C>A

NM_000267.3

p.Y2264*

c.6792C>A

1 paper

NM_001042492.3

p.N2286insFs

c.6856dupA