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.K1568insFs

c.4702dupA

Surrounding Variants

11 papers

NM_000267.3

p.S1546*

c.4637C>A

NM_001042492.3

p.S1567*

c.4700C>A

11 papers

NM_000267.3

p.S1546*

c.4637C>G

NM_001042492.3

p.S1567*

c.4700C>G

1 paper

NM_000267.3

p.K1547delFs

c.4640delA

1 paper

NM_001042492.3

p.S1567_E1570delFs

c.4701_4708del8

1 paper

NM_001042492.3

p.K1568E

c.4702A>G

1 paper

NM_000267.3

p.K1547*

c.4639A>T

1 paper

NM_001042492.3

p.S1566Fs

c.4698delinsGGCCCTCCCFs

3 papers

NM_001042492.3

p.K1568R

c.4703A>G

1 paper

NM_001042492.3

p.S1566N

c.4697G>A

2 papers

NM_001042492.3

p.F1569V

c.4705T>G

1 paper

NM_000267.3

p.F1548fs

c.4642_4643fs

1 paper

NM_001042492.3

p.T1565N

c.4694C>A