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_000267.3

p.D1535_S1540delFs

c.4604_4619del16

Surrounding Variants

1 paper

NM_001042492.3

p.A1555S

c.4663G>T

1 paper

NM_000267.3

p.A1534fs

c.4600_4601fs

2 papers

NM_001042492.3

p.A1555G

c.4664C>G

1 paper

NM_001042492.3

p.A1555V

c.4664C>T

1 paper

NM_001042492.3

p.V1554V

c.4662G>A

1 paper

NM_000267.3

p.A1534delFs

c.4600delG

1 paper

NM_001042492.3

p.V1554M

c.4660G>A

1 paper

NM_001042492.3

p.D1556N

c.4666G>A

1 paper

NM_001042492.3

p.D1556G

c.4667A>G

3 papers

NM_000267.3

p.T1536insFs

c.4606dupA

NM_001042492.3

p.T1557insFs

c.4669dupA

1 paper

NM_001042492.3

p.T1557fs

c.4669_4670fs

1 paper

NM_000267.3

p.T1536fs

c.4606_4607fs