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

2 papers

NM_001042492.3

p.K814fs

c.2440_2441fs

Surrounding Variants

1 paper

NM_001042492.3

p.K814E

c.2440A>G

2 papers

NM_001042492.3

p.K814*

c.2440A>T

1 paper

NM_001042492.3

p.K814T

c.2441A>C

1 paper

NM_001042492.3

p.K814R

c.2441A>G

1 paper

NM_001042492.3

p.V813_K814insFs

c.2439_2440insA

2 papers

NM_001042492.3

p.K814delFs

c.2440delA

1 paper

NM_001042492.3

p.R815delFs

c.2443delA

1 paper

NM_001042492.3

p.V813Fs

c.2438_2439delinsAFs

1 paper

NM_001042492.3

p.K814_H819del6

c.2440_2456del18

1 paper

NM_001042492.3

p.R815fs

c.2443_2444fs

1 paper

NM_001042492.3

p.R815delFs

c.2445delG

2 papers

NM_001042492.3

p.R815fs

c.2443_2444fs