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

3 papers

NM_001042492.3

p.E1330_S1331delFs

c.3989_3992del4

Surrounding Variants

10 papers

NM_001042492.3

p.S1329*

c.3986C>A

1 paper

NM_001042492.3

p.S1331insFs

c.3991_3992dupAG

11 papers

NM_001042492.3

p.S1329*

c.3986C>G

1 paper

NM_001042492.3

p.S1331delFs

c.3991_3992delAG

1 paper

NM_001042492.3

p.S1329S

c.3987A>G

2 papers

NM_001042492.3

p.S1329_E1330insFs

c.3987_3988ins4

1 paper

NM_001042492.3

p.E1330K

c.3988G>A

2 papers

NM_001042492.3

p.E1330Q

c.3988G>C

1 paper

NM_001042492.3

p.E1330*

c.3988G>T

1 paper

NM_001042492.3

p.E1330fs

c.3988_3989fs

1 paper

NM_001042492.3

p.E1330delins

c.3988_3990delinsTAA

2 papers

NM_001042492.3

p.E1330A

c.3989A>C