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

2 papers

NM_001042492.3

p.L484L

c.1450C>T

Surrounding Variants

1 paper

NM_001042492.3

p.L484_R487del0

c.1450_1461del12

4 papers

NM_001042492.3

p.D483G

c.1448A>G

1 paper

NM_001042492.3

p.D483V

c.1448A>T

1 paper

NM_001042492.3

p.L484L

c.1452G>A

1 paper

NM_001042492.3

p.D483N

c.1447G>A

1 paper

NM_001042492.3

p.E485Q

c.1453G>C

5 papers

NM_001042492.3

p.E485*

c.1453G>T

1 paper

NM_001042492.3

p.D483Y

c.1447G>T

3 papers

NM_001042492.3

p.D483delFs

c.1448delA

1 paper

NM_001042492.3

p.E485delFs

c.1454delA

2 papers

NM_001042492.3

p.D483fs

c.1447_1448fs

1 paper

NM_001042492.3

p.T482T

c.1446A>G