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.R2258insFs

c.6772_6773insTA

Surrounding Variants

2 papers

NM_001042492.3

p.R2258G

c.6772C>G

49 papers

NM_000267.3

p.R2237*

c.6709C>T

NM_001042492.3

p.R2258*

c.6772C>T

1 paper

NM_001042492.3

p.R2258fs

c.6772_6773fs

4 papers

NM_001042492.3

p.R2258Q

c.6773G>A

1 paper

NM_001042492.3

p.K2257fs

c.6769_6770fs

1 paper

NM_001042492.3

p.V2259L

c.6775G>C

1 paper

NM_001042492.3

p.V2259fs

c.6775_6776fs

1 paper

NM_001042492.3

p.V2259L

c.6775G>T

1 paper

NM_001042492.3

p.K2257insFs

c.6770dupA

1 paper

NM_001042492.3

p.V2259E

c.6776T>A

1 paper

NM_001042492.3

p.V2259A

c.6776T>C

2 papers

NM_001042492.3

p.V2259delFs

c.6777delG