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

4 papers

NM_001042492.3

p.G1532R

c.4594G>A

Surrounding Variants

4 papers

NM_001042492.3

p.G1532R

c.4594G>C

2 papers

NM_001042492.3

p.G1532*

c.4594G>T

1 paper

NM_000267.3

p.R1513_P1514del1

c.4538_4540delGAC

1 paper

NM_001042492.3

p.V1531I

c.4591G>A

1 paper

NM_001042492.3

p.R1533K

c.4598G>A

1 paper

NM_000267.3

p.R1512T

c.4535G>C

1 paper

NM_001042492.3

p.R1534delFs

c.4600delC

1 paper

NM_001042492.3

p.A1530D

c.4589C>A

1 paper

NM_001042492.3

p.A1530V

c.4589C>T

93 papers

NM_000267.3

p.R1513*

c.4537C>T

NM_001042492.3

p.R1534*

c.4600C>T

1 paper

NM_001042492.3

p.A1530T

c.4588G>A

1 paper

NM_001042492.3

p.A1530fs

c.4588_4589fs