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.L180_Q181delFs

c.538_541del4

Surrounding Variants

2 papers

NM_001042492.3

p.L179F

c.537G>C

2 papers

NM_001042492.3

p.L179F

c.537G>T

1 paper

NM_001042492.3

p.L180delFs

c.538delT

2 papers

NM_001042492.3

p.L179*

c.536T>A

1 paper

NM_001042492.3

p.L180insFs

c.539_540dupTA

3 papers

NM_001042492.3

p.L180fs

c.538_539fs

7 papers

NM_001042492.3

p.L180*

c.539T>A

1 paper

NM_001042492.3

p.L179L

c.535T>C

7 papers

NM_001042492.3

p.L180*

c.539T>G

4 papers

NM_001042492.3

p.L180_Q181insFs

c.540_541insA

1 paper

NM_001042492.3

p.Q181delFs

c.541_542delCA

1 paper

NM_001042492.3

p.L179fs

c.535_536fs