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

5 papers

NM_001042492.3

p.E1266*

c.3796G>T

Surrounding Variants

1 paper

NM_001042492.3

p.E1266Q

c.3796G>C

1 paper

NM_001042492.3

p.E1266delFs

c.3797delA

1 paper

NM_001042492.3

p.E1266fs

c.3796_3797fs

1 paper

NM_001042492.3

p.L1267delFs

c.3800delT

2 papers

NM_001042492.3

p.L1267fs

c.3799_3800fs

1 paper

NM_001042492.3

p.V1265delFs

c.3793delG

2 papers

NM_001042492.3

p.A1268delFs

c.3802delG

1 paper

NM_001042492.3

p.E1264A

c.3791A>C

1 paper

NM_001042492.3

p.E1264G

c.3791A>G

4 papers

NM_001042492.3

p.S1270_L1274delFs

c.3810_3820del11

3 papers

NM_001042492.3

p.E1264K

c.3790G>A

2 papers

NM_001042492.3

p.E1264Q

c.3790G>C