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.M68I

c.204G>A

Surrounding Variants

3 papers

NM_001042492.3

p.M68I

c.204G>C

1 paper

NM_001042492.3

p.M68_R69insFs

c.204_205ins4

2 papers

NM_001042492.3

p.M68I

c.204G>T

21 papers

NM_001042492.3

p.M68_R69Splc

c.204+1G>A

1 paper

NM_001042492.3

p.M68_R69Splc

c.204+1G>C

12 papers

NM_001042492.3

p.M68_R69Splc

c.204+1G>T

1 paper

NM_001042492.3

p.M68Fs

c.203delinsACAAAAFs

2 papers

NM_001042492.3

p.M68T

c.203T>C

1 paper

NM_001042492.3

p.M68insFs

c.204dupG

1 paper

NM_001042492.3

p.M68fs

c.202_203fs

1 paper

NM_001042492.3

p.M68L

c.202A>C

1 paper

NM_001042492.3

p.M68V

c.202A>G