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.E524fs

c.1570_1571fs

Surrounding Variants

3 papers

NM_001042492.3

p.E524K

c.1570G>A

1 paper

NM_001042492.3

p.E524Q

c.1570G>C

3 papers

NM_001042492.3

p.E524*

c.1570G>T

1 paper

NM_001042492.3

p.E524delFs

c.1572delA

1 paper

NM_001042492.3

p.E524fs

c.1570_1571fs

1 paper

NM_001042492.3

p.E524G

c.1571A>G

1 paper

NM_001042492.3

p.A523_L525Fs

c.1568_1573delinsCCCCCFs

1 paper

NM_001042492.3

p.A523E

c.1568C>A

1 paper

NM_001042492.3

p.A523T

c.1567G>A

1 paper

NM_001042492.3

p.A523fs

c.1567_1568fs

1 paper

NM_001042492.3

p.A523fs

c.1567_1568fs

2 papers

NM_001042492.3

p.L525I

c.1573T>A