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

5 papers

NM_001042492.3

p.Y80_L81delFs

c.240_243del4

Surrounding Variants

4 papers

NM_001042492.3

p.Y80S

c.239A>C

5 papers

NM_001042492.3

p.Y80C

c.239A>G

2 papers

NM_001042492.3

p.Y80F

c.239A>T

17 papers

NM_001042492.3

p.S82_Q83delFs

c.246_247delTC

3 papers

NM_001042492.3

p.Y80*

c.240T>A

1 paper

NM_001042492.3

p.Y80*

c.240T>G

3 papers

NM_001042492.3

p.Y80fs

c.238_239fs

2 papers

NM_001042492.3

p.Y80fs

c.238_239fs

1 paper

NM_001042492.3

p.Y80insFs

c.238dupT

5 papers

NM_001042492.3

p.L79F

c.237A>C

1 paper

NM_001042492.3

p.L79L

c.237A>G

5 papers

NM_001042492.3

p.L79F

c.237A>T