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.I500_L507delFs

c.1499_1521del23

Surrounding Variants

2 papers

NM_001042492.3

p.I500fs

c.1498_1499fs

1 paper

NM_001042492.3

p.I500V

c.1498A>G

1 paper

NM_001042492.3

p.I500delFs

c.1500delT

2 papers

NM_001042492.3

p.I500fs

c.1498_1499fs

1 paper

NM_001042492.3

p.L499L

c.1497A>C

1 paper

NM_001042492.3

p.I500_D503delFs

c.1500_1509del10

3 papers

NM_001042492.3

p.I500N

c.1499T>A

1 paper

NM_001042492.3

p.I500S

c.1499T>G

3 papers

NM_001042492.3

p.I500_H501delins

c.1499_1501delinsAAA

2 papers

NM_001042492.3

p.I500_D503Fs

c.1499_1508delinsATFs

5 papers

NM_001042492.3

p.L499P

c.1496T>C

1 paper

NM_001042492.3

p.I500I

c.1500T>C