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.Y49D

c.145T>G

Surrounding Variants

2 papers

NM_001042492.3

p.Y49N

c.145T>A

1 paper

NM_001042492.3

p.Y49H

c.145T>C

1 paper

NM_001042492.3

p.Y49fs

c.145_146fs

1 paper

NM_001042492.3

p.Y49delFs

c.146delA

4 papers

NM_001042492.3

p.Y49C

c.146A>G

2 papers

NM_001042492.3

p.K48K

c.144A>G

16 papers

NM_001042492.3

p.Y49F

c.146A>T

1 paper

NM_001042492.3

p.Y49delFs

c.147delC

2 papers

NM_001042492.3

p.K48T

c.143A>C

2 papers

NM_001042492.3

p.K48R

c.143A>G

7 papers

NM_001042492.3

p.Y49*

c.147C>A

6 papers

NM_001042492.3

p.Y49*

c.147C>G