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.C509delFs

c.1525delT

Surrounding Variants

1 paper

NM_001042492.3

p.L508I

c.1522C>A

1 paper

NM_001042492.3

p.L508fs

c.1522_1523fs

2 papers

NM_001042492.3

p.C509insFs

c.1525_1526insT

1 paper

NM_001042492.3

p.L508_C509ins4

c.1524_1525ins12

1 paper

NM_001042492.3

p.L508F

c.1522C>T

2 papers

NM_001042492.3

p.L508H

c.1523T>A

4 papers

NM_001042492.3

p.L508P

c.1523T>C

1 paper

NM_001042492.3

p.L508R

c.1523T>G

1 paper

NM_001042492.3

p.C509del1

c.1525_1526delTGT

1 paper

NM_001042492.3

p.L507*

c.1520T>A

1 paper

NM_001042492.3

p.L507S

c.1520T>C

1 paper

NM_001042492.3

p.L507V

c.1519T>G