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

7 papers

NM_001042492.3

p.C845R

c.2533T>C

Surrounding Variants

1 paper

NM_001042492.3

p.C845insFs

c.2534_2535insG

2 papers

NM_001042492.3

p.C845fs

c.2533_2534fs

1 paper

NM_001042492.3

p.C845_Q853del0

c.2534_2557del24

6 papers

NM_001042492.3

p.C845Y

c.2534G>A

2 papers

NM_001042492.3

p.C845F

c.2534G>T

1 paper

NM_001042492.3

p.C845_A846del2

c.2533_2537del6

2 papers

NM_001042492.3

p.C845*

c.2535T>A

1 paper

NM_001042492.3

p.L844H

c.2531T>A

6 papers

NM_001042492.3

p.L844P

c.2531T>C

18 papers

NM_001042492.3

p.L844R

c.2531T>G

1 paper

NM_001042492.3

p.C845W

c.2535T>G

1 paper

NM_001042492.3

p.L844I

c.2530C>A