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

4 papers

NM_001042492.3

p.E648*

c.1942G>T

Surrounding Variants

2 papers

NM_001042492.3

p.E648fs

c.1942_1943fs

2 papers

NM_001042492.3

p.E648_E649Fs

c.1944_1945delinsCFs

4 papers

NM_001042492.3

p.H647Y

c.1939C>T

1 paper

NM_001042492.3

p.H647delFs

c.1940delA

1 paper

NM_001042492.3

p.E649*

c.1945G>T

1 paper

NM_001042492.3

p.E649A

c.1946A>C

1 paper

NM_001042492.3

p.E649G

c.1946A>G

1 paper

NM_001042492.3

p.D646H

c.1936G>C

1 paper

NM_001042492.3

p.D646_H647ins10

c.1936_1940ins30

2 papers

NM_001042492.3

p.D646Y

c.1936G>T

1 paper

NM_001042492.3

p.L650fs

c.1948_1949fs

4 papers

NM_001042492.3

p.L650*

c.1949T>A