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.S745_T750del0

c.2235_2249del15

Surrounding Variants

1 paper

NM_001042492.3

p.S745N

c.2234G>A

1 paper

NM_001042492.3

p.S745fs

c.2233_2234fs

1 paper

NM_001042492.3

p.S745G

c.2233A>G

1 paper

NM_001042492.3

p.S745fs

c.2233_2234fs

1 paper

NM_001042492.3

p.N746delFs

c.2237delA

1 paper

NM_001042492.3

p.N746fs

c.2236_2237fs

1 paper

NM_001042492.3

p.S745delFs

c.2233delA

1 paper

NM_001042492.3

p.S745_S749del0

c.2233_2247del15

1 paper

NM_001042492.3

p.S745_G751delFs

c.2233_2251del19

2 papers

NM_001042492.3

p.N746S

c.2237A>G

1 paper

NM_001042492.3

p.V744I

c.2230G>A

2 papers

NM_001042492.3

p.V744fs

c.2230_2231fs