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.W9del1

c.25_27delTGG

Surrounding Variants

1 paper

NM_001042492.3

p.E8E

c.24A>G

1 paper

NM_001042492.3

p.W9delFs

c.25delT

1 paper

NM_001042492.3

p.W9delFs

c.25_26delTG

1 paper

NM_001042492.3

p.W9_V13del5

c.25_38del15

1 paper

NM_001042492.3

p.W9_E19del11

c.25_56del33

1 paper

NM_001042492.3

p.W9R

c.25T>A

1 paper

NM_001042492.3

p.W9R

c.25T>C

3 papers

NM_001042492.3

p.V10insFs

c.28dupG

3 papers

NM_001042492.3

p.W9delFs

c.27delG

1 paper

NM_001042492.3

p.W9fs

c.25_26fs

2 papers

NM_001042492.3

p.W9_V10delFs

c.27_28delGG

5 papers

NM_001042492.3

p.W9*

c.26G>A