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.H809_K810delFs

c.2427_2428delCA

Surrounding Variants

1 paper

NM_001042492.3

p.L808L

c.2424T>C

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.L808F

c.2422C>T

1 paper

NM_001042492.3

p.L808fs

c.2422_2423fs

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.L808delFs

c.2422_2423delCT

2 papers

NM_001042492.3

p.K810*

c.2428A>T

1 paper

NM_001042492.3

p.L808delFs

c.2422delC

1 paper

NM_001042492.3

p.K810R

c.2429A>G

1 paper

NM_001042492.3

p.K810delFs

c.2430delG