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.P1431delFs

c.4292delC

Surrounding Variants

1 paper

NM_001042492.3

p.K1430T

c.4289A>C

6 papers

NM_001042492.3

p.K1430E

c.4288A>G

NM_000267.3

p.K1409E

c.4225A>G

2 papers

NM_001042492.3

p.K1430*

c.4288A>T

1 paper

NM_001042492.3

p.K1430fs

c.4288_4289fs

1 paper

NM_001042492.3

p.K1429I

c.4286A>T

2 papers

NM_001042492.3

p.P1432insFs

c.4295_4296dupCA

1 paper

NM_000267.3

p.P1411_R1413insFs

c.4232_4239dup8

1 paper

NM_001042492.3

p.K1429fs

c.4285_4286fs

1 paper

NM_001042492.3

p.K1429*

c.4285A>T

1 paper

NM_001042492.3

p.P1432insFs

c.4296dupA

1 paper

NM_001042492.3

p.K1429insFs

c.4285_4286insA

1 paper

NM_001042492.3

p.K1430delFs

c.4289delA