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.E163fs

c.487_488fs

Surrounding Variants

1 paper

NM_001042492.3

p.E163K

c.487G>A

7 papers

NM_001042492.3

p.E163*

c.487G>T

2 papers

NM_001042492.3

p.E163delFs

c.489delA

1 paper

NM_001042492.3

p.E163fs

c.487_488fs

1 paper

NM_001042492.3

p.E163G

c.488A>G

1 paper

NM_001042492.3

p.E163V

c.488A>T

1 paper

NM_001042492.3

p.E163Fs

c.488_489delinsGFs

1 paper

NM_001042492.3

p.E163_L164insFs

c.489_490insT

2 papers

NM_001042492.3

p.E163delFs

c.487delG

2 papers

NM_001042492.3

p.Q162K

c.484C>A

1 paper

NM_001042492.3

p.Q162_E163insAT

c.484_488ins6

2 papers

NM_001042492.3

p.Q162E

c.484C>G