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.T473delFs

c.1417delA

Surrounding Variants

1 paper

NM_001042492.3

p.V472insFs

c.1414_1415insT

1 paper

NM_001042492.3

p.V472fs

c.1414_1415fs

1 paper

NM_001042492.3

p.T473fs

c.1417_1418fs

1 paper

NM_001042492.3

p.T473A

c.1417A>G

1 paper

NM_001042492.3

p.T473fs

c.1417_1418fs

6 papers

NM_001042492.3

p.V472delFs

c.1414delG

1 paper

NM_001042492.3

p.K471T

c.1412A>C

1 paper

NM_001042492.3

p.K471_V472delFs

c.1413_1414delAG

2 papers

NM_001042492.3

p.T473I

c.1418C>T

1 paper

NM_001042492.3

p.K471fs

c.1411_1412fs

5 papers

NM_001042492.3

p.K471*

c.1411A>T

1 paper

NM_001042492.3

p.K471fs

c.1411_1412fs