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.T1245_L1246insFs

c.3735_3736insT

Surrounding Variants

3 papers

NM_001042492.3

p.T1245S

c.3734C>G

1 paper

NM_001042492.3

p.T1245Fs

c.3734delinsGGTTTATGGTTTFs

1 paper

NM_001042492.3

p.T1245I

c.3734C>T

2 papers

NM_001042492.3

p.T1245fs

c.3733_3734fs

1 paper

NM_001042492.3

p.T1245A

c.3733A>G

3 papers

NM_001042492.3

p.T1245S

c.3733A>T

2 papers

NM_001042492.3

p.L1246delFs

c.3736_3737delCT

1 paper

NM_001042492.3

p.T1245fs

c.3733_3734fs

1 paper

NM_001042492.3

p.L1246delFs

c.3736delC

1 paper

NM_001042492.3

p.L1246_N1259del0

c.3736_3777del42

6 papers

NM_001042492.3

p.L1246fs

c.3736_3737fs

2 papers

NM_001042492.3

p.L1246V

c.3736C>G