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.H448_K449del2

c.1342_1346del6

Surrounding Variants

1 paper

NM_001042492.3

p.H448N

c.1342C>A

2 papers

NM_001042492.3

p.H448Y

c.1342C>T

3 papers

NM_001042492.3

p.L447P

c.1340T>C

3 papers

NM_001042492.3

p.H448R

c.1343A>G

1 paper

NM_001042492.3

p.L447fs

c.1339_1340fs

2 papers

NM_001042492.3

p.L447V

c.1339C>G

5 papers

NM_001042492.3

p.L447F

c.1339C>T

1 paper

NM_001042492.3

p.L447delFs

c.1341delT

1 paper

NM_001042492.3

p.L447fs

c.1339_1340fs

1 paper

NM_001042492.3

p.L447_H448del2

c.1339_1343del6

1 paper

NM_001042492.3

p.K449delFs

c.1347delA

1 paper

NM_001042492.3

p.K449del1

c.1345_1347delAAA