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.K77T

c.230A>C

Surrounding Variants

5 papers

NM_001042492.3

p.K77N

c.231A>C

4 papers

NM_001042492.3

p.K77N

c.231A>T

1 paper

NM_001042492.3

p.K77*

c.229A>T

13 papers

NM_001042492.3

p.N78fs

c.232_233fs

2 papers

NM_001042492.3

p.E76D

c.228A>C

2 papers

NM_001042492.3

p.N78D

c.232A>G

2 papers

NM_001042492.3

p.E76D

c.228A>T

2 papers

NM_001042492.3

p.N78Y

c.232A>T

8 papers

NM_001042492.3

p.N78fs

c.232_233fs

1 paper

NM_001042492.3

p.E76ins1

c.227_228insTCT

1 paper

NM_001042492.3

p.E76A

c.227A>C

6 papers

NM_001042492.3

p.E76G

c.227A>G