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

8 papers

NM_001042492.3

p.E244K

c.730G>A

Surrounding Variants

2 papers

NM_001042492.3

p.E244*

c.730G>T

2 papers

NM_001042492.3

p.E244G

c.731A>G

7 papers

NM_001042492.3

p.E244Splc

c.730+1G>A

2 papers

NM_001042492.3

p.E244Splc

c.730+1G>C

3 papers

NM_001042492.3

p.E244Splc

c.730+1G>T

2 papers

NM_001042492.3

p.E244D

c.732A>C

2 papers

NM_001042492.3

p.E244D

c.732A>T

1 paper

NM_001042492.3

p.A243V

c.728C>T

5 papers

NM_001042492.3

p.E244Splc

c.730+2T>G

1 paper

NM_001042492.3

p.E244Splc

c.730+3A>C

1 paper

NM_001042492.3

p.A243T

c.727G>A

1 paper

NM_001042492.3

p.A243S

c.727G>T