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.L507insFs

c.1519_1520insT

Surrounding Variants

1 paper

NM_001042492.3

p.L507delFs

c.1520delT

1 paper

NM_001042492.3

p.L507_L508del2

c.1519_1523del6

1 paper

NM_001042492.3

p.L506H

c.1517T>A

1 paper

NM_001042492.3

p.L506R

c.1517T>G

1 paper

NM_001042492.3

p.L507V

c.1519T>G

5 papers

NM_001042492.3

p.L507fs

c.1519_1520fs

1 paper

NM_001042492.3

p.L507*

c.1520T>A

1 paper

NM_001042492.3

p.L507S

c.1520T>C

1 paper

NM_001042492.3

p.K505K

c.1515G>A

1 paper

NM_001042492.3

p.K505N

c.1515G>C

1 paper

NM_001042492.3

p.K505N

c.1515G>T

1 paper

NM_001042492.3

p.L508I

c.1522C>A