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.C187_A188del2

c.559_563del6

Surrounding Variants

1 paper

NM_001042492.3

p.C187delFs

c.559_560delTG

15 papers

NM_001042492.3

p.D186V

c.557A>T

2 papers

NM_001042492.3

p.C187S

c.559T>A

2 papers

NM_001042492.3

p.C187delFs

c.560delG

2 papers

NM_001042492.3

p.C187Y

c.560G>A

1 paper

NM_001042492.3

p.D186N

c.556G>A

1 paper

NM_001042492.3

p.C187S

c.560G>C

9 papers

NM_001042492.3

p.D186Y

c.556G>T

1 paper

NM_001042492.3

p.C187F

c.560G>T

1 paper

NM_001042492.3

p.D186delFs

c.557delA

1 paper

NM_001042492.3

p.D186fs

c.556_557fs

1 paper

NM_001042492.3

p.C187_A188delFs

c.561_564del4