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

2 papers

NM_001042492.3

p.P2509S

c.7525C>T

Surrounding Variants

2 papers

NM_000267.3

p.Y2487*

c.7461T>A

2 papers

NM_000267.3

p.Y2487*

c.7461T>G

2 papers

NM_001042492.3

p.T2510A

c.7528A>G

8 papers

NM_000267.3

p.T2486I

c.7457C>T

NM_001042492.3

p.T2507I

c.7520C>T

1 paper

NM_000267.3

p.T2486delFs

c.7458delC

1 paper

NM_001042492.3

p.V2511I

c.7531G>A

3 papers

NM_001042492.3

p.V2511L

c.7531G>C

1 paper

NM_001042492.3

p.V2511fs

c.7531_7532fs

1 paper

NM_001042492.3

p.T2507delFs

c.7519delA

1 paper

NM_001042492.3

p.A2506_Y2508Fs

c.7517_7523delinsATFs

1 paper

NM_001042492.3

p.G2512delFs

c.7535delG

1 paper

NM_001042492.3

p.G2512S

c.7534G>A