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

60 papers

NM_000267.3

p.R1809C

c.5425C>T

NM_001042492.3

p.R1830C

c.5488C>T

Surrounding Variants

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

6 papers

NM_001042492.3

p.R1830G

c.5488C>G

NM_000267.3

p.R1809G

c.5425C>G

1 paper

NM_001042492.3

p.R1830_L1833del4

c.5488_5498del12

3 papers

NM_000267.3

p.R1809H

c.5426G>A

NM_001042492.3

p.R1830H

c.5489G>A

8 papers

NM_000267.3

p.R1809P

c.5426G>C

NM_001042492.3

p.R1830P

c.5489G>C

10 papers

NM_000267.3

p.R1809L

c.5426G>T

NM_001042492.3

p.R1830L

c.5489G>T

1 paper

NM_001042492.3

p.T1829S

c.5486C>G

1 paper

NM_000267.3

p.W1810delFs

c.5428delT

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