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.Q11Q

c.33G>A

Surrounding Variants

2 papers

NM_001042492.3

p.Q11H

c.33G>C

1 paper

NM_001042492.3

p.A12insFs

c.34_35insTG

1 paper

NM_001042492.3

p.Q11H

c.33G>T

1 paper

NM_001042492.3

p.A12delFs

c.34_35delGC

1 paper

NM_001042492.3

p.A12del1

c.34_36delGCC

1 paper

NM_001042492.3

p.Q11R

c.32A>G

1 paper

NM_001042492.3

p.Q11delFs

c.33delG

1 paper

NM_001042492.3

p.Q11_A12delFs

c.33_34delGG

9 papers

NM_001042492.3

p.A12T

c.34G>A

5 papers

NM_001042492.3

p.A12P

c.34G>C

2 papers

NM_001042492.3

p.A12insFs

c.35dupC

7 papers

NM_001042492.3

p.A12S

c.34G>T