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

2 papers

NM_001042492.3

p.G631R

c.1891G>C

Surrounding Variants

2 papers

NM_001042492.3

p.G631R

c.1891G>A

1 paper

NM_001042492.3

p.G631*

c.1891G>T

1 paper

NM_001042492.3

p.V630V

c.1890A>C

1 paper

NM_001042492.3

p.G631_C632del2

c.1891_1895del6

2 papers

NM_001042492.3

p.G631E

c.1892G>A

1 paper

NM_001042492.3

p.G631A

c.1892G>C

1 paper

NM_001042492.3

p.G631V

c.1892G>T

5 papers

NM_001042492.3

p.V630E

c.1889T>A

3 papers

NM_001042492.3

p.V630I

c.1888G>A

1 paper

NM_001042492.3

p.V630L

c.1888G>C

1 paper

NM_001042492.3

p.V630fs

c.1888_1889fs

1 paper

NM_001042492.3

p.V630L

c.1888G>T