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.I1996delFs

c.5986delA

Surrounding Variants

2 papers

NM_001042492.3

p.A1994insFs

c.5982dupA

2 papers

NM_001042492.3

p.A1994fs

c.5980_5981fs

3 papers

NM_001042492.3

p.A1994fs

c.5980_5981fs

1 paper

NM_001042492.3

p.Q1993insFs

c.5979dupA

1 paper

NM_001042492.3

p.Q1993E

c.5977C>G

5 papers

NM_001042492.3

p.Q1993*

c.5977C>T

1 paper

NM_001042492.3

p.I1996fs

c.5986_5987fs

3 papers

NM_001042492.3

p.A1994_K1995delFs

c.5980_5983del4

1 paper

NM_001042492.3

p.I1992V

c.5974A>G

1 paper

NM_000267.3

p.I1971fs

c.5911_5912fs

1 paper

NM_000267.3

p.W1976fs

c.5926_5927fs

1 paper

NM_000267.3

p.W1976delFs

c.5927delG