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

80 papers

NM_001042492.3

p.G629R

c.1885G>C

Surrounding Variants

92 papers

NM_001042492.3

p.G629R

c.1885G>A

6 papers

NM_001042492.3

p.Y628*

c.1884C>A

2 papers

NM_001042492.3

p.Y628_G629insFs

c.1884_1885insA

6 papers

NM_001042492.3

p.Y628*

c.1884C>G

1 paper

NM_001042492.3

p.Y628Y

c.1884C>T

6 papers

NM_001042492.3

p.V630delFs

c.1888delG

1 paper

NM_001042492.3

p.G629_V630delFs

c.1887_1888delGG

1 paper

NM_001042492.3

p.G629_V630del2

c.1885_1889del6

1 paper

NM_001042492.3

p.G629_Q642delFs

c.1885_1925del41

2 papers

NM_001042492.3

p.G629A

c.1886G>C

1 paper

NM_001042492.3

p.G629V

c.1886G>T

1 paper

NM_001042492.3

p.Y628S

c.1883A>C