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.R2452_C2453insA

c.7354_7358ins3

Surrounding Variants

1 paper

NM_001042492.3

p.R2452S

c.7354C>A

2 papers

NM_001042492.3

p.R2452C

c.7354C>T

1 paper

NM_000267.3

p.R2431delFs

c.7292delG

1 paper

NM_000267.3

p.R2431fs

c.7291_7292fs

3 papers

NM_001042492.3

p.R2452H

c.7355G>A

1 paper

NM_001042492.3

p.R2452L

c.7355G>T

1 paper

NM_001042492.3

p.S2451delFs

c.7352delG

1 paper

NM_001042492.3

p.C2453Y

c.7358G>A

1 paper

NM_001042492.3

p.C2453*

c.7359C>A

4 papers

NM_001042492.3

p.R2450Q

c.7349G>A

65 papers

NM_000267.3

p.R2429*

c.7285C>T

NM_001042492.3

p.R2450*

c.7348C>T

1 paper

NM_001042492.3

p.L2455fs

c.7363_7364fs