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.V185L

c.553G>C

Surrounding Variants

1 paper

NM_001042492.3

p.V185M

c.553G>A

2 papers

NM_001042492.3

p.V185L

c.553G>T

1 paper

NM_001042492.3

p.V185_C187delFs

c.555_559del5

1 paper

NM_001042492.3

p.V185delFs

c.553delG

1 paper

NM_001042492.3

p.V185delFs

c.555delG

1 paper

NM_001042492.3

p.V185_D186delFs

c.553_556del4

2 papers

NM_001042492.3

p.V185_D186insFs

c.555_556insTG

3 papers

NM_001042492.3

p.N184S

c.551A>G

3 papers

NM_001042492.3

p.N184I

c.551A>T

1 paper

NM_001042492.3

p.V185V

c.555G>C

2 papers

NM_001042492.3

p.N184fs

c.550_551fs

2 papers

NM_001042492.3

p.N184H

c.550A>C