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.G528W

c.1582G>T

Surrounding Variants

1 paper

NM_001042492.3

p.G528R

c.1582G>A

1 paper

NM_001042492.3

p.G528R

c.1582G>C

1 paper

NM_001042492.3

p.G528delFs

c.1584delG

1 paper

NM_001042492.3

p.G528E

c.1583G>A

2 papers

NM_001042492.3

p.T527S

c.1579A>T

2 papers

NM_001042492.3

p.T527delFs

c.1580delC

1 paper

NM_001042492.3

p.L529_V530insGA

c.1585_1589ins6

4 papers

NM_001042492.3

p.L529F

c.1585C>T

2 papers

NM_001042492.3

p.L529H

c.1586T>A

3 papers

NM_001042492.3

p.L529P

c.1586T>C

1 paper

NM_001042492.3

p.V530_Q531del2

c.1588_1592del6

2 papers

NM_001042492.3

p.I526S

c.1577T>G