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.G1547D

c.4640G>A

Surrounding Variants

2 papers

NM_001042492.3

p.G1547fs

c.4639_4640fs

1 paper

NM_000267.3

p.G1526fs

c.4576_4577fs

1 paper

NM_001042492.3

p.P1548S

c.4642C>T

1 paper

NM_001042492.3

p.G1547_K1552del6

c.4639_4655del18

1 paper

NM_001042492.3

p.P1548L

c.4643C>T

1 paper

NM_001042492.3

p.P1548delFs

c.4644delT

2 papers

NM_000267.3

p.L1525P

c.4574T>C

NM_001042492.3

p.L1546P

c.4637T>C

1 paper

NM_000267.3

p.G1526delFs

c.4577delG

2 papers

NM_000267.3

p.L1525_G1526insT

c.4573_4577ins3

NM_001042492.3

p.L1546_G1547insC

c.4636_4640ins3

1 paper

NM_001042492.3

p.L1546insFs

c.4637dupT

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