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

3 papers

NM_001042492.3

p.R1828Q

c.5483G>A

Surrounding Variants

3 papers

NM_001042492.3

p.R1828W

c.5482C>T

2 papers

NM_001042492.3

p.T1829insFs

c.5486_5487insC

1 paper

NM_001042492.3

p.T1829_R1830insFs

c.5487_5490dup4

1 paper

NM_001042492.3

p.T1829A

c.5485A>G

1 paper

NM_001042492.3

p.T1829S

c.5485A>T

1 paper

NM_001042492.3

p.I1827M

c.5481C>G

1 paper

NM_001042492.3

p.R1828_R1830delFs

c.5483_5490del8

1 paper

NM_001042492.3

p.T1829S

c.5486C>G

1 paper

NM_000267.3

p.R1807delFs

c.5419delC

1 paper

NM_001042492.3

p.R1830_L1833del4

c.5488_5498del12

6 papers

NM_001042492.3

p.R1830S

c.5488C>A

NM_000267.3

p.R1809S

c.5425C>A

1 paper

NM_001042492.3

p.R1830insFs

c.5489dupG