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.D1302delFs

c.3904delG

Surrounding Variants

2 papers

NM_001042492.3

p.L1301R

c.3902T>G

1 paper

NM_001042492.3

p.L1301insFs

c.3902_3903ins13

1 paper

NM_001042492.3

p.L1301_D1302ins4

c.3901_3905ins12

2 papers

NM_001042492.3

p.D1302_L1304delFs

c.3904_3910del7

1 paper

NM_001042492.3

p.L1301_P1303del3

c.3901_3908del9

1 paper

NM_001042492.3

p.D1302fs

c.3904_3905fs

1 paper

NM_001042492.3

p.D1302Y

c.3904G>T

1 paper

NM_001042492.3

p.D1302fs

c.3904_3905fs

2 papers

NM_001042492.3

p.D1302insFs

c.3905_3906insT

1 paper

NM_001042492.3

p.D1302G

c.3905A>G

1 paper

NM_001042492.3

p.L1300P

c.3899T>C

1 paper

NM_001042492.3

p.L1300fs

c.3898_3899fs