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.S35_T36del2

c.103_107del6

Surrounding Variants

2 papers

NM_001042492.3

p.S35C

c.103A>T

1 paper

NM_001042492.3

p.S35fs

c.103_104fs

2 papers

NM_001042492.3

p.V34A

c.101T>C

1 paper

NM_001042492.3

p.V34G

c.101T>G

1 paper

NM_001042492.3

p.V34delFs

c.102delC

3 papers

NM_001042492.3

p.S35N

c.104G>A

2 papers

NM_001042492.3

p.V34I

c.100G>A

1 paper

NM_001042492.3

p.S35I

c.104G>T

1 paper

NM_001042492.3

p.V34delFs

c.101delT

2 papers

NM_001042492.3

p.K33K

c.99A>G

1 paper

NM_001042492.3

p.V34_S35del2

c.100_104del6

1 paper

NM_001042492.3

p.V34_T36del3

c.100_107del9