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.L493_L494Fs

c.1479_1480delinsGFs

Surrounding Variants

1 paper

NM_001042492.3

p.L494delFs

c.1480_1481delTT

2 papers

NM_001042492.3

p.L494M

c.1480T>A

1 paper

NM_001042492.3

p.L493R

c.1478T>G

1 paper

NM_001042492.3

p.L494fs

c.1480_1481fs

1 paper

NM_001042492.3

p.S495_M496del2

c.1483_1487del6

4 papers

NM_001042492.3

p.L493V

c.1477C>G

2 papers

NM_001042492.3

p.L493F

c.1477C>T

1 paper

NM_001042492.3

p.L493fs

c.1477_1478fs

2 papers

NM_001042492.3

p.L494*

c.1481T>A

1 paper

NM_001042492.3

p.L494S

c.1481T>C

1 paper

NM_001042492.3

p.L494F

c.1482G>C

1 paper

NM_001042492.3

p.L494F

c.1482G>T