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.S436delFs

c.1306_1307delTC

Surrounding Variants

2 papers

NM_001042492.3

p.H435R

c.1304A>G

1 paper

NM_001042492.3

p.H435L

c.1304A>T

1 paper

NM_001042492.3

p.H435Q

c.1305C>A

1 paper

NM_001042492.3

p.H435Q

c.1305C>G

1 paper

NM_001042492.3

p.H435Y

c.1303C>T

1 paper

NM_001042492.3

p.S436_V437delFs

c.1307_1311del5

1 paper

NM_001042492.3

p.C434*

c.1302T>A

2 papers

NM_001042492.3

p.S436fs

c.1306_1307fs

7 papers

NM_001042492.3

p.S436*

c.1307C>A

3 papers

NM_001042492.3

p.S436L

c.1307C>T

2 papers

NM_001042492.3

p.C434Y

c.1301G>A

1 paper

NM_001042492.3

p.C434S

c.1301G>C