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.T486T

c.1458A>C

Surrounding Variants

1 paper

NM_001042492.3

p.R487G

c.1459A>G

2 papers

NM_001042492.3

p.R487*

c.1459A>T

1 paper

NM_001042492.3

p.T486I

c.1457C>T

2 papers

NM_001042492.3

p.T486S

c.1456A>T

1 paper

NM_001042492.3

p.T486delFs

c.1457delC

4 papers

NM_001042492.3

p.R487K

c.1460G>A

2 papers

NM_001042492.3

p.S488delFs

c.1462delA

2 papers

NM_001042492.3

p.S488_Y489insFs

c.1463_1466dup4

1 paper

NM_001042492.3

p.S488_Y489insFs

c.1464_1465ins11

1 paper

NM_001042492.3

p.S488fs

c.1462_1463fs

1 paper

NM_001042492.3

p.S488C

c.1462A>T

3 papers

NM_001042492.3

p.S488fs

c.1462_1463fs