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.K810delFs

c.2430delG

Surrounding Variants

1 paper

NM_001042492.3

p.K810R

c.2429A>G

2 papers

NM_001042492.3

p.K810*

c.2428A>T

1 paper

NM_001042492.3

p.T811fs

c.2431_2432fs

1 paper

NM_001042492.3

p.I812_H819delFs

c.2436_2457del22

1 paper

NM_001042492.3

p.K810_V813ins1

c.2428_2439dup12

1 paper

NM_001042492.3

p.H809_K810insFs

c.2427_2428ins5

1 paper

NM_001042492.3

p.T811I

c.2432C>T

1 paper

NM_001042492.3

p.T811_H819del0

c.2433_2456del24

1 paper

NM_001042492.3

p.H809Y

c.2425C>T

1 paper

NM_001042492.3

p.H809fs

c.2425_2426fs

1 paper

NM_001042492.3

p.I812insFs

c.2436dupT

1 paper

NM_001042492.3

p.I812L

c.2434A>C