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

2 papers

NM_001042492.3

p.R720W

c.2158C>T

Surrounding Variants

1 paper

NM_001042492.3

p.R720delFs

c.2160delG

1 paper

NM_001042492.3

p.R720Fs

c.2158_2160delinsAFs

4 papers

NM_001042492.3

p.R720fs

c.2158_2159fs

7 papers

NM_001042492.3

p.R720Q

c.2159G>A

8 papers

NM_001042492.3

p.I719T

c.2156T>C

1 paper

NM_001042492.3

p.I719delFs

c.2157delC

3 papers

NM_001042492.3

p.I719fs

c.2155_2156fs

1 paper

NM_001042492.3

p.I719delFs

c.2156delT

4 papers

NM_001042492.3

p.I719fs

c.2155_2156fs

1 paper

NM_001042492.3

p.C721S

c.2161T>A

1 paper

NM_001042492.3

p.C721R

c.2161T>C

2 papers

NM_001042492.3

p.C721fs

c.2161_2162fs