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.F477L

c.1431T>G

Surrounding Variants

2 papers

NM_001042492.3

p.F477L

c.1431T>A

2 papers

NM_001042492.3

p.K478E

c.1432A>G

1 paper

NM_001042492.3

p.K478*

c.1432A>T

1 paper

NM_001042492.3

p.F477C

c.1430T>G

1 paper

NM_001042492.3

p.F477_K478ins0

c.1431_1433dupTAA

1 paper

NM_001042492.3

p.F477_T482delFs

c.1431_1446del16

1 paper

NM_001042492.3

p.K478T

c.1433A>C

3 papers

NM_001042492.3

p.F477L

c.1429T>C

1 paper

NM_001042492.3

p.F477_E479insFs

c.1430_1437dup8

2 papers

NM_001042492.3

p.F477fs

c.1429_1430fs

1 paper

NM_001042492.3

p.F477delFs

c.1431delT

1 paper

NM_001042492.3

p.F477_E485del9

c.1429_1454del27