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.K2489delFs

c.7467delG

Surrounding Variants

2 papers

NM_001042492.3

p.K2489R

c.7466A>G

1 paper

NM_001042492.3

p.K2489insFs

c.7465_7466insG

1 paper

NM_001042492.3

p.K2489E

c.7465A>G

1 paper

NM_001042492.3

p.E2490_T2491insFs

c.7470_7471dupGA

1 paper

NM_001042492.3

p.K2489_E2490del2

c.7465_7469del6

1 paper

NM_001042492.3

p.E2490Q

c.7468G>C

2 papers

NM_001042492.3

p.E2490fs

c.7468_7469fs

1 paper

NM_001042492.3

p.E2490_T2491insT

c.7468_7472ins3

2 papers

NM_001042492.3

p.E2490*

c.7468G>T

1 paper

NM_001042492.3

p.L2488_K2489insFs

c.7464_7465ins4

1 paper

NM_000267.3

p.L2467fs

c.7399_7400fs

1 paper

NM_001042492.3

p.L2488insFs

c.7463dupT