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.H1507fs

c.4519_4520fs

Surrounding Variants

1 paper

NM_001042492.3

p.H1528D

c.4582C>G

1 paper

NM_000267.3

p.D1506delFs

c.4518delT

2 papers

NM_001042492.3

p.K1529delFs

c.4587delA

1 paper

NM_001042492.3

p.D1527fs

c.4579_4580fs

1 paper

NM_001042492.3

p.D1527Y

c.4579G>T

1 paper

NM_001042492.3

p.D1527fs

c.4579_4580fs

1 paper

NM_001042492.3

p.K1529R

c.4586A>G

1 paper

NM_000267.3

p.R1505S

c.4515G>C

3 papers

NM_000267.3

p.R1505Splc

c.4515-1G>A

NM_001042492.3

p.R1526Splc

c.4578-1G>A

1 paper

NM_001042492.3

p.R1526Splc

c.4578-1G>T

5 papers

NM_000267.3

p.R1505Splc

c.4515-2A>G

1 paper

NM_000267.3

p.R1505Splc

c.4515-2A>T