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.V2449delFs

c.7345_7346delGT

Surrounding Variants

1 paper

NM_001042492.3

p.E2448K

c.7342G>A

1 paper

NM_000267.3

p.E2427_V2428del2

c.7279_7283del6

65 papers

NM_000267.3

p.R2429*

c.7285C>T

NM_001042492.3

p.R2450*

c.7348C>T

4 papers

NM_001042492.3

p.R2450Q

c.7349G>A

1 paper

NM_001042492.3

p.E2448_V2449del1

c.7343_7345delAAG

1 paper

NM_001042492.3

p.S2451delFs

c.7352delG

4 papers

NM_001042492.3

p.S2446C

c.7337C>G

4 papers

NM_001042492.3

p.S2446delFs

c.7337delC

1 paper

NM_001042492.3

p.R2452S

c.7354C>A

2 papers

NM_001042492.3

p.R2452_C2453insA

c.7354_7358ins3

2 papers

NM_001042492.3

p.R2452C

c.7354C>T

1 paper

NM_000267.3

p.R2431delFs

c.7292delG