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

5 papers

NM_001042492.3

p.K92insFs

c.276dupA

Surrounding Variants

3 papers

NM_001042492.3

p.E91K

c.271G>A

1 paper

NM_001042492.3

p.E91fs

c.271_272fs

3 papers

NM_001042492.3

p.E91*

c.271G>T

4 papers

NM_001042492.3

p.K92delFs

c.276delA

1 paper

NM_001042492.3

p.E91fs

c.271_272fs

1 paper

NM_001042492.3

p.E91G

c.272A>G

1 paper

NM_001042492.3

p.L90L

c.270G>T

1 paper

NM_001042492.3

p.E91_L94del0

c.271_282del12

6 papers

NM_001042492.3

p.E91D

c.273A>C

1 paper

NM_001042492.3

p.E91E

c.273A>G

1 paper

NM_001042492.3

p.E91D

c.273A>T

7 papers

NM_001042492.3

p.L90P

c.269T>C