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.A1523fs

c.4567_4568fs

Surrounding Variants

1 paper

NM_000267.3

p.A1523insFs

c.4568dupC

2 papers

NM_001042492.3

p.A1544E

c.4631C>A

1 paper

NM_001042492.3

p.A1544delFs

c.4632delA

2 papers

NM_000267.3

p.L1522P

c.4565T>C

NM_001042492.3

p.L1543P

c.4628T>C

2 papers

NM_001042492.3

p.L1543F

c.4627C>T

1 paper

NM_001042492.3

p.L1543fs

c.4627_4628fs

5 papers

NM_000267.3

p.Y1524*

c.4572C>A

NM_001042492.3

p.Y1545*

c.4635C>A

5 papers

NM_000267.3

p.Y1524*

c.4572C>G

NM_001042492.3

p.Y1545*

c.4635C>G

1 paper

NM_001042492.3

p.L1542P

c.4625T>C

1 paper

NM_001042492.3

p.L1542R

c.4625T>G

1 paper

NM_001042492.3

p.L1542insFs

c.4625_4626insGA

1 paper

NM_001042492.3

p.L1542I

c.4624C>A