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.T2487fs

c.7459_7460fs

Surrounding Variants

1 paper

NM_001042492.3

p.T2487S

c.7459A>T

2 papers

NM_001042492.3

p.T2487I

c.7460C>T

1 paper

NM_001042492.3

p.T2487_L2488delFs

c.7461_7462delAC

1 paper

NM_000267.3

p.L2467insFs

c.7399_7400insTC

1 paper

NM_000267.3

p.L2467_P2476del10

c.7399_7427del30

2 papers

NM_001042492.3

p.R2486Splc

c.7458-1G>A

2 papers

NM_001042492.3

p.R2486Splc

c.7458-1G>C

NM_000267.3

p.R2465Splc

c.7395-1G>C

1 paper

NM_001042492.3

p.R2486Splc

c.7458-1G>T

2 papers

NM_000267.3

p.R2465Splc

c.7395-2A>G

NM_001042492.3

p.R2486Splc

c.7458-2A>G

1 paper

NM_000267.3

p.L2467fs

c.7399_7400fs

1 paper

NM_001042492.3

p.L2488insFs

c.7463dupT

1 paper

NM_001042492.3

p.L2488L

c.7462C>T