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.N45N

c.135T>C

Surrounding Variants

1 paper

NM_001042492.3

p.I46_Y49delFs

c.138_145del8

1 paper

NM_001042492.3

p.I46fs

c.136_137fs

1 paper

NM_001042492.3

p.N45T

c.134A>C

7 papers

NM_001042492.3

p.N45S

c.134A>G

2 papers

NM_001042492.3

p.N45fs

c.133_134fs

1 paper

NM_001042492.3

p.N45_I46insCG

c.133_137ins6

1 paper

NM_001042492.3

p.I46S

c.137T>G

1 paper

NM_001042492.3

p.I44M

c.132C>G

1 paper

NM_001042492.3

p.N45delFs

c.133delA

1 paper

NM_001042492.3

p.I44N

c.131T>A

2 papers

NM_001042492.3

p.S47P

c.139T>C

1 paper

NM_001042492.3

p.S47fs

c.139_140fs