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.E1356K

c.4066G>A

Surrounding Variants

1 paper

NM_001042492.3

p.E1356fs

c.4066_4067fs

3 papers

NM_001042492.3

p.E1356*

c.4066G>T

1 paper

NM_001042492.3

p.E1356A

c.4067A>C

6 papers

NM_001042492.3

p.E1356G

c.4067A>G

2 papers

NM_001042492.3

p.E1356V

c.4067A>T

4 papers

NM_001042492.3

p.S1355*

c.4064C>A

4 papers

NM_001042492.3

p.S1355*

c.4064C>G

1 paper

NM_001042492.3

p.S1355L

c.4064C>T

2 papers

NM_001042492.3

p.S1355_E1356delFs

c.4065_4066delAG

1 paper

NM_001042492.3

p.S1355_E1356delFs

c.4065_4068del4

4 papers

NM_001042492.3

p.F1357fs

c.4069_4070fs

1 paper

NM_001042492.3

p.S1355fs

c.4063_4064fs