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

11 papers

NM_001042492.3

p.Q543*

c.1627C>T

Surrounding Variants

1 paper

NM_001042492.3

p.Q543E

c.1627C>G

1 paper

NM_001042492.3

p.Q543delFs

c.1629delG

1 paper

NM_001042492.3

p.Q543_M546del4

c.1627_1637del12

1 paper

NM_001042492.3

p.A542G

c.1625C>G

1 paper

NM_001042492.3

p.Q543H

c.1629G>C

1 paper

NM_001042492.3

p.Q543H

c.1629G>T

1 paper

NM_001042492.3

p.E544_A545del2

c.1630_1634del6

4 papers

NM_001042492.3

p.A542T

c.1624G>A

3 papers

NM_001042492.3

p.E544K

c.1630G>A

2 papers

NM_001042492.3

p.E544_A545ins1

c.1632_1633insTAA

1 paper

NM_001042492.3

p.A542fs

c.1624_1625fs

1 paper

NM_001042492.3

p.E544fs

c.1630_1631fs