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.L43L

c.127C>T

Surrounding Variants

1 paper

NM_001042492.3

p.L43fs

c.127_128fs

1 paper

NM_001042492.3

p.L43V

c.127C>G

1 paper

NM_001042492.3

p.L43Fs

c.127_128delinsATAFs

2 papers

NM_001042492.3

p.L43Q

c.128T>A

4 papers

NM_001042492.3

p.L43P

c.128T>C

1 paper

NM_001042492.3

p.L43R

c.128T>G

1 paper

NM_001042492.3

p.L43delFs

c.129delA

1 paper

NM_001042492.3

p.L43_I44del2

c.127_131del6

1 paper

NM_001042492.3

p.I44_N45del2

c.130_134del6

2 papers

NM_001042492.3

p.C42Y

c.125G>A

1 paper

NM_001042492.3

p.I44insFs

c.130_131insTC

1 paper

NM_001042492.3

p.I44V

c.130A>G