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.E547fs

c.1639_1640fs

Surrounding Variants

1 paper

NM_001042492.3

p.E547K

c.1639G>A

1 paper

NM_001042492.3

p.E547_A548ins3

c.1639_1643ins9

4 papers

NM_001042492.3

p.E547*

c.1639G>T

1 paper

NM_001042492.3

p.M546I

c.1638G>C

1 paper

NM_001042492.3

p.E547E

c.1641G>A

1 paper

NM_001042492.3

p.E547D

c.1641G>C

1 paper

NM_001042492.3

p.E547D

c.1641G>T

1 paper

NM_001042492.3

p.M546K

c.1637T>A

1 paper

NM_001042492.3

p.M546T

c.1637T>C

1 paper

NM_001042492.3

p.M546_E547insT

c.1636_1640ins3

1 paper

NM_001042492.3

p.M546L

c.1636A>C

4 papers

NM_001042492.3

p.M546V

c.1636A>G