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.C714S

c.2141G>C

Surrounding Variants

1 paper

NM_001042492.3

p.C714S

c.2140T>A

1 paper

NM_001042492.3

p.C714*

c.2142T>A

1 paper

NM_001042492.3

p.E715_E716del2

c.2143_2147del6

1 paper

NM_001042492.3

p.C714_E715delFs

c.2142_2143delTG

4 papers

NM_001042492.3

p.E715*

c.2143G>T

1 paper

NM_001042492.3

p.L713fs

c.2137_2138fs

1 paper

NM_001042492.3

p.E716Q

c.2146G>C

1 paper

NM_001042492.3

p.E716_I719insFs

c.2148_2155dup8

1 paper

NM_001042492.3

p.E716delFs

c.2148delA

1 paper

NM_001042492.3

p.H712_C714delFs

c.2136_2142del7

1 paper

NM_001042492.3

p.A717G

c.2150C>G

3 papers

NM_001042492.3

p.R711fs

c.2131_2132fs