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.A459V

c.1376C>T

Surrounding Variants

2 papers

NM_001042492.3

p.A459E

c.1376C>A

2 papers

NM_001042492.3

p.I460insFs

c.1378dupA

1 paper

NM_001042492.3

p.I460_M462delFs

c.1378_1385del8

1 paper

NM_001042492.3

p.A459T

c.1375G>A

1 paper

NM_001042492.3

p.A459fs

c.1375_1376fs

1 paper

NM_001042492.3

p.I460V

c.1378A>G

3 papers

NM_001042492.3

p.I460fs

c.1378_1379fs

2 papers

NM_001042492.3

p.P458Q

c.1373C>A

1 paper

NM_001042492.3

p.P458insFs

c.1374dupA

1 paper

NM_001042492.3

p.P458L

c.1373C>T

1 paper

NM_001042492.3

p.I460T

c.1379T>C

1 paper

NM_001042492.3

p.I460M

c.1380A>G