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.P1847fs

c.5539_5540fs

Surrounding Variants

1 paper

NM_001042492.3

p.P1847A

c.5539C>G

1 paper

NM_001042492.3

p.P1847L

c.5540C>T

1 paper

NM_001042492.3

p.R1846Q

c.5537G>A

1 paper

NM_001042492.3

p.R1846fs

c.5536_5537fs

6 papers

NM_001042492.3

p.R1846W

c.5536C>T

1 paper

NM_001042492.3

p.R1846_K1848del3

c.5536_5543del9

2 papers

NM_001042492.3

p.I1845S

c.5534T>G

NM_000267.3

p.I1824S

c.5471T>G

1 paper

NM_000267.3

p.I1824insFs

c.5471_5472insT

1 paper

NM_001042492.3

p.I1845F

c.5533A>T

1 paper

NM_001042492.3

p.I1845delFs

c.5534delT

6 papers

NM_000267.3

p.D1828N

c.5482G>A

NM_001042492.3

p.D1849N

c.5545G>A

3 papers

NM_000267.3

p.D1828Y

c.5482G>T

NM_001042492.3

p.D1849Y

c.5545G>T