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

4 papers

NM_001042492.3

p.Q514P

c.1541A>C

Surrounding Variants

2 papers

NM_001042492.3

p.Q514R

c.1541A>G

4 papers

NM_001042492.3

p.Q514delFs

c.1542delG

1 paper

NM_001042492.3

p.G515delFs

c.1544_1545delGG

17 papers

NM_001042492.3

p.Q514fs

c.1540_1541fs

6 papers

NM_001042492.3

p.Q514*

c.1540C>T

3 papers

NM_001042492.3

p.Q514delFs

c.1541delA

60 papers

NM_001042492.3

p.Q514delFs

c.1541_1542delAG

30 papers

NM_001042492.3

p.Q514fs

c.1540_1541fs

1 paper

NM_001042492.3

p.K513N

c.1539A>C

1 paper

NM_001042492.3

p.K513N

c.1539A>T

1 paper

NM_001042492.3

p.Q514del1

c.1540_1541delCAG

1 paper

NM_001042492.3

p.G515R

c.1543G>A