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

4 papers

NM_000267.3

p.E1919*

c.5755G>T

NM_001042492.3

p.E1940*

c.5818G>T

Surrounding Variants

2 papers

NM_001042492.3

p.E1940delFs

c.5819delA

1 paper

NM_001042492.3

p.I1939N

c.5816T>A

1 paper

NM_000267.3

p.I1918T

c.5753T>C

7 papers

NM_001042492.3

p.I1939insFs

c.5816_5817insG

2 papers

NM_001042492.3

p.I1939fs

c.5815_5816fs

1 paper

NM_001042492.3

p.I1939delFs

c.5816delT

1 paper

NM_001042492.3

p.L1941fs

c.5821_5822fs

3 papers

NM_000267.3

p.S1917fs

c.5749_5750fs

1 paper

NM_000267.3

p.S1917_I1918insFs

c.5750_5754dup5

2 papers

NM_001042492.3

p.K1942R

c.5825A>G

1 paper

NM_001042492.3

p.S1938Splc

c.5813-2A>T

1 paper

NM_000267.3

p.L1923insFs

c.5767dupC