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.A463delFs

c.1387delG

Surrounding Variants

1 paper

NM_001042492.3

p.M462fs

c.1384_1385fs

1 paper

NM_001042492.3

p.M462V

c.1384A>G

1 paper

NM_001042492.3

p.M462I

c.1386G>A

1 paper

NM_001042492.3

p.M462I

c.1386G>C

1 paper

NM_001042492.3

p.M462I

c.1386G>T

4 papers

NM_001042492.3

p.A463T

c.1387G>A

2 papers

NM_001042492.3

p.A463P

c.1387G>C

1 paper

NM_001042492.3

p.A463fs

c.1387_1388fs

1 paper

NM_001042492.3

p.A463_P464delFs

c.1389_1390delAC

1 paper

NM_001042492.3

p.A463E

c.1388C>A

1 paper

NM_001042492.3

p.A463V

c.1388C>T

2 papers

NM_001042492.3

p.A463delFs

c.1389delA