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.L651L

c.1953A>G

Surrounding Variants

5 papers

NM_001042492.3

p.R652C

c.1954C>T

6 papers

NM_001042492.3

p.R652H

c.1955G>A

2 papers

NM_001042492.3

p.T653fs

c.1957_1958fs

1 paper

NM_001042492.3

p.T653_P654insA

c.1957_1961ins3

4 papers

NM_001042492.3

p.L650*

c.1949T>A

1 paper

NM_001042492.3

p.L650S

c.1949T>C

4 papers

NM_001042492.3

p.L650*

c.1949T>G

1 paper

NM_001042492.3

p.L650_L651insFs

c.1950_1951insA

1 paper

NM_001042492.3

p.L650fs

c.1948_1949fs

1 paper

NM_001042492.3

p.E649A

c.1946A>C

1 paper

NM_001042492.3

p.E649G

c.1946A>G

5 papers

NM_001042492.3

p.P654S

c.1960C>T