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.D424E

c.1272T>A

Surrounding Variants

1 paper

NM_001042492.3

p.D424E

c.1272T>G

1 paper

NM_001042492.3

p.W425_W426del2

c.1273_1277del6

1 paper

NM_001042492.3

p.W425R

c.1273T>A

1 paper

NM_001042492.3

p.W425R

c.1273T>C

9 papers

NM_001042492.3

p.W425*

c.1274G>A

1 paper

NM_001042492.3

p.D424N

c.1270G>A

2 papers

NM_001042492.3

p.W425S

c.1274G>C

1 paper

NM_001042492.3

p.D424fs

c.1270_1271fs

1 paper

NM_001042492.3

p.D424_W425insA

c.1270_1274ins3

8 papers

NM_001042492.3

p.W425*

c.1275G>A

1 paper

NM_001042492.3

p.L423L

c.1269G>A

1 paper

NM_001042492.3

p.D424_I429delFs

c.1270_1286del17