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.S2523_L2524insT

c.7567_7571ins3

Surrounding Variants

1 paper

NM_001042492.3

p.S2523C

c.7567A>T

1 paper

NM_001042492.3

p.L2524delFs

c.7570delC

1 paper

NM_001042492.3

p.M2522fs

c.7564_7565fs

2 papers

NM_000267.3

p.D2504delFs

c.7510delG

NM_001042492.3

p.D2525delFs

c.7573delG

4 papers

NM_001042492.3

p.S2521F

c.7562C>T

1 paper

NM_001042492.3

p.L2524L

c.7572G>A

1 paper

NM_000267.3

p.D2504fs

c.7510_7511fs

1 paper

NM_001042492.3

p.D2525A

c.7574A>C

1 paper

NM_001042492.3

p.K2520fs

c.7558_7559fs

1 paper

NM_001042492.3

p.M2526insFs

c.7577dupT

1 paper

NM_001042492.3

p.M2526fs

c.7576_7577fs

1 paper

NM_001042492.3

p.G2527insFs

c.7580dupG