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.V1957A

c.5870T>C

Surrounding Variants

1 paper

NM_001042492.3

p.R1958fs

c.5872_5873fs

2 papers

NM_001042492.3

p.R1958C

c.5872C>T

3 papers

NM_001042492.3

p.C1960insFs

c.5878dupT

3 papers

NM_000267.3

p.C1939delFs

c.5815delT

NM_001042492.3

p.C1960delFs

c.5878delT

2 papers

NM_000267.3

p.L1935P

c.5804T>C

NM_001042492.3

p.L1956P

c.5867T>C

1 paper

NM_001042492.3

p.L1956R

c.5867T>G

1 paper

NM_000267.3

p.N1934fs

c.5800_5801fs

3 papers

NM_001042492.3

p.C1960fs

c.5878_5879fs

1 paper

NM_001042492.3

p.C1960delFs

c.5879delG

3 papers

NM_000267.3

p.C1939fs

c.5815_5816fs

NM_001042492.3

p.C1960fs

c.5878_5879fs

4 papers

NM_000267.3

p.S1933*

c.5798C>A

NM_001042492.3

p.S1954*

c.5861C>A

1 paper

NM_000267.3

p.N1934insFs

c.5801dupA