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.E445K

c.1333G>A

Surrounding Variants

3 papers

NM_001042492.3

p.E445*

c.1333G>T

1 paper

NM_001042492.3

p.T446_L447del2

c.1336_1340del6

2 papers

NM_001042492.3

p.G444D

c.1331G>A

1 paper

NM_001042492.3

p.G444A

c.1331G>C

1 paper

NM_001042492.3

p.G444insFs

c.1331_1332insA

1 paper

NM_001042492.3

p.G444_E445delins

c.1331_1333delinsATA

1 paper

NM_001042492.3

p.T446A

c.1336A>G

2 papers

NM_001042492.3

p.L447_H448delFs

c.1339_1343del5

2 papers

NM_001042492.3

p.G444S

c.1330G>A

3 papers

NM_001042492.3

p.G444R

c.1330G>C

2 papers

NM_001042492.3

p.T446I

c.1337C>T

3 papers

NM_001042492.3

p.T446delFs

c.1338delA