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.K498_L499insGT

c.1492_1496ins6

Surrounding Variants

1 paper

NM_001042492.3

p.K498fs

c.1492_1493fs

1 paper

NM_001042492.3

p.K498fs

c.1492_1493fs

1 paper

NM_001042492.3

p.K498R

c.1493A>G

22 papers

NM_001042492.3

p.L499_A502del4

c.1495_1505del12

1 paper

NM_001042492.3

p.V497E

c.1490T>A

1 paper

NM_001042492.3

p.V497G

c.1490T>G

2 papers

NM_001042492.3

p.V497M

c.1489G>A

1 paper

NM_001042492.3

p.V497fs

c.1489_1490fs

5 papers

NM_001042492.3

p.L499P

c.1496T>C

9 papers

NM_001042492.3

p.L499R

c.1496T>G

1 paper

NM_001042492.3

p.H501ins3

c.1502_1503ins9

1 paper

NM_001042492.3

p.L499L

c.1497A>C