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.L1439insFs

c.4315dupT

Surrounding Variants

1 paper

NM_001042492.3

p.L1439delFs

c.4316delT

1 paper

NM_001042492.3

p.G1438insFs

c.4314dupC

3 papers

NM_001042492.3

p.G1438S

c.4312G>A

1 paper

NM_001042492.3

p.G1438R

c.4312G>C

1 paper

NM_001042492.3

p.G1438C

c.4312G>T

2 papers

NM_001042492.3

p.L1439*

c.4316T>A

1 paper

NM_001042492.3

p.L1439S

c.4316T>C

1 paper

NM_001042492.3

p.K1440insFs

c.4318_4319dupAA

5 papers

NM_001042492.3

p.G1438del1

c.4312_4314delGGC

3 papers

NM_001042492.3

p.K1440_L1441insA

c.4318_4322ins3

2 papers

NM_001042492.3

p.K1440Q

c.4318A>C

1 paper

NM_000267.3

p.K1419E

c.4255A>G