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

2 papers

NM_001042492.3

p.Y227insFs

c.679_680insAG

Surrounding Variants

1 paper

NM_001042492.3

p.Y227H

c.679T>C

1 paper

NM_001042492.3

p.Y227C

c.680A>G

2 papers

NM_001042492.3

p.Y227F

c.680A>T

1 paper

NM_001042492.3

p.Y227_P228del2

c.679_683del6

4 papers

NM_001042492.3

p.N226T

c.677A>C

1 paper

NM_001042492.3

p.N226delFs

c.678delT

6 papers

NM_001042492.3

p.Y227*

c.681T>A

6 papers

NM_001042492.3

p.Y227*

c.681T>G

1 paper

NM_001042492.3

p.Y227_P228delins

c.681_682delinsGT

1 paper

NM_001042492.3

p.N226fs

c.676_677fs

1 paper

NM_001042492.3

p.N226D

c.676A>G

1 paper

NM_001042492.3

p.P228fs

c.682_683fs