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.H415insFs

c.1243dupC

Surrounding Variants

1 paper

NM_001042492.3

p.L414H

c.1241T>A

3 papers

NM_001042492.3

p.L414P

c.1241T>C

5 papers

NM_001042492.3

p.L414R

c.1241T>G

1 paper

NM_001042492.3

p.L414V

c.1240C>G

1 paper

NM_001042492.3

p.L414F

c.1240C>T

4 papers

NM_001042492.3

p.H415Y

c.1243C>T

1 paper

NM_001042492.3

p.H415fs

c.1243_1244fs

2 papers

NM_001042492.3

p.H415R

c.1244A>G

2 papers

NM_001042492.3

p.S413*

c.1238C>A

2 papers

NM_001042492.3

p.S413*

c.1238C>G

3 papers

NM_001042492.3

p.S413L

c.1238C>T

1 paper

NM_001042492.3

p.S413delFs

c.1239delA