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.M590I

c.1770G>C

Surrounding Variants

1 paper

NM_001042492.3

p.M590I

c.1770G>A

1 paper

NM_001042492.3

p.M590I

c.1770G>T

1 paper

NM_001042492.3

p.L591fs

c.1771_1772fs

2 papers

NM_001042492.3

p.L591V

c.1771C>G

2 papers

NM_001042492.3

p.M590T

c.1769T>C

1 paper

NM_001042492.3

p.M590insFs

c.1770dupG

1 paper

NM_001042492.3

p.M590fs

c.1768_1769fs

1 paper

NM_001042492.3

p.L591P

c.1772T>C

1 paper

NM_001042492.3

p.L591R

c.1772T>G

1 paper

NM_001042492.3

p.Q589H

c.1767A>C

1 paper

NM_001042492.3

p.Q589H

c.1767A>T

1 paper

NM_001042492.3

p.S592delFs

c.1774delA