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

40 papers

NM_000267.3

p.R2496*

c.7486C>T

NM_001042492.3

p.R2517*

c.7549C>T

Surrounding Variants

1 paper

NM_001042492.3

p.R2517fs

c.7549_7550fs

1 paper

NM_001042492.3

p.P2516A

c.7546C>G

1 paper

NM_001042492.3

p.A2518T

c.7552G>A

1 paper

NM_001042492.3

p.A2518S

c.7552G>T

1 paper

NM_001042492.3

p.A2518V

c.7553C>T

1 paper

NM_001042492.3

p.S2515insFs

c.7544_7545insGA

1 paper

NM_001042492.3

p.K2520fs

c.7558_7559fs

2 papers

NM_001042492.3

p.T2514A

c.7540A>G

1 paper

NM_001042492.3

p.Q2513H

c.7539G>C

1 paper

NM_001042492.3

p.Q2513H

c.7539G>T

1 paper

NM_001042492.3

p.Q2513K

c.7537C>A

3 papers

NM_001042492.3

p.Q2513*

c.7537C>T