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.A1540delFs

c.4620delA

Surrounding Variants

1 paper

NM_001042492.3

p.A1540E

c.4619C>A

24 papers

NM_001042492.3

p.T1541_L1542del2

c.4621_4625del6

1 paper

NM_001042492.3

p.A1540fs

c.4618_4619fs

1 paper

NM_001042492.3

p.T1541fs

c.4621_4622fs

1 paper

NM_001042492.3

p.M1539I

c.4617G>A

1 paper

NM_001042492.3

p.M1539I

c.4617G>C

1 paper

NM_001042492.3

p.M1539I

c.4617G>T

1 paper

NM_001042492.3

p.M1539K

c.4616T>A

1 paper

NM_000267.3

p.L1521insFs

c.4561dupC

1 paper

NM_001042492.3

p.L1542I

c.4624C>A

1 paper

NM_001042492.3

p.L1542V

c.4624C>G

1 paper

NM_001042492.3

p.L1542F

c.4624C>T